Summary stats

General stats about the patient cohort

Stat Value
Unique HPO terms 3481
Cohort size 12044
Rejected patients by empty profile 0
HPOs per patient (average) 8.5966
HPO terms per patient: percentile 90 3
Percentage of HPO with more specific children 61.3607
DsI for uniq HP terms 0.1937557392102845
DsI for frequency weigthed HP terms 0.314835368109508
Number of unknown phenotypes 0
Number of clusters with mutations accross > 1 chromosomes 2374
Average variant size 5053537.4597
Nucleotides affected by mutations 2917478733
Number of genome windows 21578
Mean patients per genome window 48.5962
Number of genome window shared by >= 2 patients 21522
Number of patients with at least 1 SOR 12044
Nucleotides affected by mutations 2891961067

HPO stats

HPOs more frequent in the cohort

HPO Patient percentage
Intellectual disability 42.5938226502823
Delayed speech and language development 18.872467618731317
Microcephaly 14.754234473596812
Hypotonia 14.621388243108601
Global developmental delay 14.031883095317172
Micrognathia 11.972766522749916
Low-set ears 11.781800066423115
Hypertelorism 11.60743938890734
Proportionate short stature 9.946861507804716
Short stature 9.407173696446364
Strabismus 9.216207240119562
Epicanthus 9.18299568249751
High palate 7.821321819993357
Small for gestational age 7.771504483560279
Seizure 7.0076386582530725
Downslanted palpebral fissures 6.650614413816008
Autism 6.193955496512786
Wide nasal bridge 6.04450348721355
Feeding difficulties in infancy 5.845234141481235
Depressed nasal bridge 5.836931252075722
EEG abnormality 5.712387910993026
Frontal bossing 5.687479242776487
Ventricular septal defect 5.5961474593158425
Short neck 5.571238791099303
Cryptorchidism 5.496512786449684
Upslanted palpebral fissure 5.446695450016606
Thin upper lip vermilion 5.313849219528396
Long philtrum 4.9070076386582535
Abnormality of the pinna 4.89870474925274
Short nose 4.882098970441714
Cleft palate 4.599800730654267
Single transverse palmar crease 4.566589173032215
Scoliosis 4.549983394221189
Abnormal facial shape 4.475257389571571
Atrial septal defect 4.39222849551644
Anteverted nares 4.350714048488874
Macrocephaly 4.350714048488874
Autistic behavior 4.309199601461308
Finger clinodactyly 4.192959149784125
Obesity 4.168050481567585
Recurrent infections 4.076718698106941
Downturned corners of mouth 3.9272666888077055
Ptosis 3.802723347725008
Premature birth 3.802723347725008
Macrotia 3.6947857854533375
Short palpebral fissure 3.6532713384257725
Congenital microcephaly 3.6117568913982065
Posteriorly rotated ears 3.5785453337761544
Narrow mouth 3.5038193291265363
Brachycephaly 3.4623048820989704
Protruding ear 3.2630355363666554
Deeply set eye 3.2464297575556293
Joint laxity 3.213218199933577
Prominent nasal bridge 3.2049153105280634
Short philtrum 3.1052806376619064
Hydrocephalus 3.1052806376619064
Hypospadias 2.947525738957157
Aggressive behavior 2.9060112919295915
Inguinal hernia 2.8644968449020256
Talipes equinovarus 2.856193955496513
Hearing impairment 2.723347725008303
Bulbous nose 2.6818332779807372
2-3 toe syndactyly 2.673530388575224
Pes planus 2.673530388575224
Wide intermamillary distance 2.6071072733311196
Intellectual disability, mild 2.6071072733311196
Wide mouth 2.5821986051145798
Clinodactyly of the 5th finger 2.5738957157090665
Hypoplasia of the corpus callosum 2.5572899368980404
Patent ductus arteriosus 2.5406841580870143
Tapered finger 2.515775489870475
Microtia 2.4991697110594484
Hyperactivity 2.4908668216539356
Micropenis 2.4327465958153436
Brachydactyly 2.4161408170043175
High anterior hairline 2.382929259382265
Sacral dimple 2.3331119229491866
Behavioral abnormality 2.3331119229491866
Plagiocephaly 2.2749916971105946
Intrauterine growth retardation 2.2749916971105946
Synophrys 2.2666888077050813
Narrow forehead 2.250083028894055
Arachnodactyly 2.241780139488542
Pectus excavatum 2.1421454666223845
Camptodactyly of finger 2.1421454666223845
Attention deficit hyperactivity disorder 2.1338425772168716
Specific learning disability 2.1172367984058456
Facial asymmetry 2.1089339090003323
Hypermetropia 2.100631019594819
Motor delay 2.0840252407837925
Overlapping toe 2.0674194619727664
Hypotelorism 2.042510793756227
Generalized hypotonia 2.034207904350714
Broad forehead 2.0009963467286616
Constipation 2.0009963467286616
Pulmonic stenosis 1.9760876785121222
Malar flattening 1.9760876785121222
Short foot 1.9760876785121222
Prominent nose 1.9345732314845567
Dolichocephaly 1.9096645632680171
Cognitive impairment 1.9096645632680171
Intellectual disability, moderate 1.901361673862504
Hypoplastic philtrum 1.8930587844569908
Mild global developmental delay 1.8930587844569908
Thick upper lip vermilion 1.8515443374294254
Telecanthus 1.8349385586183993
Umbilical hernia 1.7934241115908336
Small hand 1.7934241115908336
Long face 1.7685154433742942
Myopia 1.743606775157755
Thick lower lip vermilion 1.7353038857522418
Moderate global developmental delay 1.7020923281301892
Blepharophimosis 1.6937894387246761
Midface retrusion 1.6937894387246761
Preauricular pit 1.6522749916971107
Mandibular prognathia 1.6356692128860844
Short attention span 1.6107605446695448
Spasticity 1.6107605446695448
Sandal gap 1.6024576552640317
Narrow palate 1.5775489870474926
Nystagmus 1.5775489870474926
Small nail 1.536034540019927
Sensorineural hearing impairment 1.5277316506144138
Sleep disturbance 1.5028229823978745
Delayed closure of the anterior fontanelle 1.5028229823978745
Preauricular skin tag 1.4945200929923612
Round face 1.4779143141813351
Trigonocephaly 1.469611424775822
Long eyelashes 1.469611424775822
Flat occiput 1.469611424775822
Hydronephrosis 1.4613085353703088
Microphthalmia 1.4530056459647958
Broad nasal tip 1.4280969777482564
Proximal placement of thumb 1.4280969777482564
Stereotypy 1.3865825307206907
Hypertonia 1.3865825307206907
Thick eyebrow 1.3782796413151777
Triangular face 1.3782796413151777
Everted lower lip vermilion 1.3616738625041516
Proptosis 1.3616738625041516
Delayed skeletal maturation 1.3533709730986383
Tall stature 1.3533709730986383
Highly arched eyebrow 1.345068083693125
Ataxia 1.345068083693125
Thin lower lip vermilion 1.328462304882099
Low anterior hairline 1.3118565260710728
Abnormality of the face 1.3118565260710728
Low posterior hairline 1.3118565260710728
Kyphosis 1.3035536366655598
Webbed neck 1.2786449684490202
Hip dislocation 1.2703420790435072
Generalized hirsutism 1.262039189637994
Abnormality of cardiovascular system morphology 1.253736300232481
Anal atresia 1.2371305214214545
Iris coloboma 1.2122218532049154
Prominent metopic ridge 1.2122218532049154
Gastroesophageal reflux 1.195616074393889
Polyhydramnios 1.195616074393889
Tetralogy of Fallot 1.1707074061773497
Joint hypermobility 1.1707074061773497
Convex nasal ridge 1.1374958485552973
Pointed chin 1.1374958485552973
Delayed gross motor development 1.1374958485552973
Non-midline cleft lip 1.120890069744271
Craniosynostosis 1.120890069744271
Gait disturbance 1.120890069744271
Nasal speech 1.1042842909332449
Growth delay 1.1042842909332449
Misalignment of teeth 1.0876785121222186
Wide nasal base 1.0876785121222186
Open mouth 1.0710727333111922
Full cheeks 1.0710727333111922
Rocker bottom foot 1.0710727333111922
Cerebral atrophy 1.0710727333111922
Absent speech 1.0461640650946529
Bifid uvula 1.0295582862836268
Sparse hair 1.0212553968781135
Short toe 1.0212553968781135
Conductive hearing impairment 1.0129525074726005
Prominent antihelix 1.0046496180670872
Intellectual disability, severe 1.0046496180670872
Stenosis of the external auditory canal 0.9963467286615741
Broad neck 0.9880438392560611
Cataract 0.979740949850548
Hypothyroidism 0.9714380604450349
Vesicoureteral reflux 0.9631351710395218
Severe global developmental delay 0.9631351710395218
Breech presentation 0.9631351710395218
Short phalanx of finger 0.9548322816340086
Coarse facial features 0.9548322816340086
Cutaneous finger syndactyly 0.9465293922284954
Neonatal hypotonia 0.9382265028229824
Prominent occiput 0.9216207240119562
Underdeveloped nasal alae 0.9216207240119562
Deep philtrum 0.9133178346064431
Narrow chest 0.9050149452009298
Redundant neck skin 0.9050149452009298
Caesarian section 0.9050149452009298
Renal hypoplasia 0.8967120557954168
Slender build 0.8967120557954168
Postnatal microcephaly 0.8967120557954168
Cafe-au-lait spot 0.8884091663899036
Coarctation of aorta 0.8884091663899036
Talipes equinovalgus 0.8884091663899036
Abnormal heart morphology 0.8884091663899036
Abnormality of prenatal development or birth 0.8884091663899036
Failure to thrive 0.8884091663899036
Broad thumb 0.8801062769843906
Atopic dermatitis 0.8635004981733644
Spotty hyperpigmentation 0.8468947193623381
Abnormality of the kidney 0.8385918299568249
Visual impairment 0.8302889405513119
Anxiety 0.8302889405513119
Short palm 0.8136831617402857
Widely spaced teeth 0.8053802723347724
Hypocalcemia 0.7970773829292593
Long toe 0.7887744935237463
Scrotal hypoplasia 0.7804716041182331
Large for gestational age 0.7638658253072069
Genu valgum 0.7638658253072069
Flexion contracture 0.7555629359016938
Postaxial hand polydactyly 0.7555629359016938
Exaggerated cupid's bow 0.7555629359016938
Broad hallux 0.7472600464961806
Ectopic anus 0.7472600464961806
Abnormality of the upper respiratory tract 0.7472600464961806
Abnormality of the palmar creases 0.7306542676851544
Sloping forehead 0.7306542676851544
Atrioventricular canal defect 0.7223513782796412
Broad palm 0.7223513782796412
Depressed nasal ridge 0.7223513782796412
Supernumerary nipple 0.7223513782796412
Renal agenesis 0.7140484888741282
Postnatal growth retardation 0.7140484888741282
Prominent fingertip pads 0.7057455994686151
Prominent glabella 0.7057455994686151
Language impairment 0.6974427100631019
Holoprosencephaly 0.6891398206575888
Prominent forehead 0.6891398206575888
Protruding tongue 0.6808369312520758
Macroglossia 0.6808369312520758
Cerebellar hypoplasia 0.6808369312520758
Aortic valve stenosis 0.6642311524410495
Smooth philtrum 0.6642311524410495
Abnormal umbilicus morphology 0.6559282630355364
Large earlobe 0.6476253736300233
Truncal obesity 0.6393224842245101
Impaired social interactions 0.6393224842245101
Febrile seizure (within the age range of 3 months to 6 years) 0.631019594818997
Almond-shaped palpebral fissure 0.631019594818997
Capillary hemangioma 0.6227167054134839
Multiple renal cysts 0.6227167054134839
Feeding difficulties 0.6227167054134839
Sparse and thin eyebrow 0.6144138160079707
Barrel-shaped chest 0.6144138160079707
Expressive language delay 0.6061109266024577
Pectus carinatum 0.5978080371969445
Macrocephaly at birth 0.5978080371969445
Fine hair 0.5895051477914314
Renal dysplasia 0.5895051477914314
Intestinal malrotation 0.5895051477914314
Elbow flexion contracture 0.5895051477914314
Retrognathia 0.5895051477914314
Abnormal vertebral morphology 0.5812022583859183
Astigmatism 0.5812022583859183
Choanal atresia 0.5728993689804052
Submucous cleft hard palate 0.564596479574892
Bilateral tonic-clonic seizure 0.564596479574892
Emotional lability 0.564596479574892
Overlapping fingers 0.564596479574892
Hammertoe 0.556293590169379
Oligohydramnios 0.556293590169379
Respiratory distress 0.556293590169379
Frontal upsweep of hair 0.5479907007638658
Dysarthria 0.5479907007638658
Pes cavus 0.5479907007638658
Abnormality of the outer ear 0.5479907007638658
Neurodevelopmental delay 0.5479907007638658
Aplasia/Hypoplasia of the thymus 0.5479907007638658
Decreased testicular size 0.5396878113583528
Slender finger 0.5396878113583528
Abnormality of the helix 0.5396878113583528
Low hanging columella 0.5396878113583528
Hypoplastic nipples 0.5396878113583528
Microdontia 0.5313849219528396
Hyperextensibility of the finger joints 0.5313849219528396
Abnormal labia morphology 0.5230820325473264
Hypoplasia of the maxilla 0.5230820325473264
Hyperlordosis 0.5230820325473264
Abnormality of the dentition 0.5230820325473264
Decreased fetal movement 0.5230820325473264
Abnormality of the skin 0.5147791431418134
Ureteral atresia 0.5147791431418134
Coarse hair 0.5147791431418134
Infantile axial hypotonia 0.5147791431418134
Long foot 0.5064762537363002
Psychosis 0.5064762537363002
Diastasis recti 0.49817336433078707
Abnormality of vision 0.49817336433078707
Horseshoe kidney 0.49817336433078707
Long palpebral fissure 0.49817336433078707
Laryngomalacia 0.49817336433078707
Large hands 0.489870474925274
Congenital diaphragmatic hernia 0.489870474925274
Oligodontia 0.489870474925274
Adducted thumb 0.4815675855197609
Carious teeth 0.4815675855197609
Generalized-onset seizure 0.4732646961142477
Optic atrophy 0.46496180670873466
Delayed fine motor development 0.46496180670873466
Epileptic spasm 0.45665891730322156
Hoarse voice 0.4483560278977084
Hyperconvex nail 0.4483560278977084
Premature closure of fontanelles 0.4483560278977084
Generalized non-motor (absence) seizure 0.4400531384921953
Prominent ear helix 0.4400531384921953
Asymmetry of the thorax 0.4400531384921953
Abnormal aggressive, impulsive or violent behavior 0.4400531384921953
Lissencephaly 0.4317502490866822
Sclerocornea 0.4317502490866822
Aplasia/Hypoplasia of the earlobes 0.4317502490866822
Thin vermilion border 0.4317502490866822
Eczema 0.4317502490866822
Short metacarpal 0.4317502490866822
Cardiomyopathy 0.42344735968116903
Broad foot 0.42344735968116903
Macrodontia 0.41514447027565593
Uplifted earlobe 0.41514447027565593
Skin dimple 0.41514447027565593
Toe syndactyly 0.41514447027565593
Agenesis of corpus callosum 0.41514447027565593
Asymmetry of the ears 0.4068415808701428
High forehead 0.4068415808701428
Hypoglycemia 0.39853869146462967
Abnormal foot morphology 0.39853869146462967
Abnormal erythrocyte morphology 0.39853869146462967
Overgrowth 0.39853869146462967
Coloboma 0.39023580205911657
Diabetes mellitus 0.39023580205911657
Pulmonary hypoplasia 0.39023580205911657
Edema of the dorsum of feet 0.39023580205911657
Broad face 0.38193291265360346
Broad philtrum 0.38193291265360346
Abnormal dermatoglyphics 0.38193291265360346
Missing ribs 0.38193291265360346
Wide cranial sutures 0.38193291265360346
Hallux valgus 0.3736300232480903
High pitched voice 0.3736300232480903
Delayed eruption of teeth 0.3736300232480903
Abnormal thumb morphology 0.3736300232480903
Mild short stature 0.3736300232480903
Asthma 0.3736300232480903
Abnormality of dental morphology 0.3653271338425772
Mitral regurgitation 0.3653271338425772
Abnormal immunoglobulin level 0.3653271338425772
Supernumerary ribs 0.3653271338425772
Dental malocclusion 0.3570242444370641
Delayed puberty 0.3570242444370641
Ventriculomegaly 0.3570242444370641
Intellectual disability, borderline 0.3570242444370641
Preeclampsia 0.3570242444370641
Blue sclerae 0.34872135503155094
Small face 0.34872135503155094
Torticollis 0.34872135503155094
Alveolar ridge overgrowth 0.34872135503155094
Shawl scrotum 0.34872135503155094
Cutis marmorata 0.34872135503155094
Underdeveloped supraorbital ridges 0.34872135503155094
Aniridia 0.34872135503155094
Deep palmar crease 0.3404184656260379
Pyloric stenosis 0.3404184656260379
Gingival overgrowth 0.3404184656260379
Cerebellar vermis hypoplasia 0.3404184656260379
Self-mutilation 0.3404184656260379
Small forehead 0.3404184656260379
Severe expressive language delay 0.3404184656260379
Conspicuously happy disposition 0.3404184656260379
Inappropriate behavior 0.3404184656260379
Wide nose 0.3404184656260379
Postterm pregnancy 0.3404184656260379
Apraxia 0.33211557622052473
Narrow nasal bridge 0.33211557622052473
Abnormality of dental enamel 0.33211557622052473
Periorbital fullness 0.33211557622052473
Glaucoma 0.33211557622052473
Abnormal thrombocyte morphology 0.33211557622052473
Hemivertebrae 0.33211557622052473
Decreased response to growth hormone stimuation test 0.33211557622052473
Abnormal lung lobation 0.33211557622052473
Abnormality of the uterus 0.32381268681501163
Attached earlobe 0.32381268681501163
Increased body weight 0.32381268681501163
Hypoplastic left heart 0.32381268681501163
Drooling 0.32381268681501163
Dandy-Walker malformation 0.3155097974094985
Echolalia 0.3155097974094985
Deep plantar creases 0.3155097974094985
Facial hemangioma 0.3155097974094985
Low-set, posteriorly rotated ears 0.3155097974094985
Long fingers 0.3155097974094985
Relative macrocephaly 0.3155097974094985
Generalized neonatal hypotonia 0.3155097974094985
High, narrow palate 0.3155097974094985
Neonatal asphyxia 0.3155097974094985
Abnormal hair whorl 0.30720690800398537
Tricuspid regurgitation 0.30720690800398537
Ulnar deviation of the hand 0.30720690800398537
Lacrimal duct aplasia 0.30720690800398537
Inverted nipples 0.30720690800398537
Short chin 0.30720690800398537
Incoordination 0.30720690800398537
Muscle fiber atrophy 0.30720690800398537
Spina bifida occulta 0.29890401859847227
T lymphocytopenia 0.29890401859847227
Short thumb 0.29890401859847227
Abnormality of toe 0.29890401859847227
Prominent supraorbital ridges 0.29890401859847227
Developmental regression 0.29890401859847227
Poor speech 0.29890401859847227
Hypertrichosis 0.29890401859847227
Poor fine motor coordination 0.29890401859847227
Edema 0.29060112919295916
Hyperplasia of midface 0.29060112919295916
Self-injurious behavior 0.29060112919295916
Low frustration tolerance 0.29060112919295916
Limited hip movement 0.29060112919295916
Turricephaly 0.282298239787446
Truncus arteriosus 0.282298239787446
Omphalocele 0.282298239787446
Hand clenching 0.282298239787446
Abnormality of the columella 0.282298239787446
Dystonia 0.282298239787446
Metatarsus adductus 0.282298239787446
Bicuspid aortic valve 0.282298239787446
Hearing abnormality 0.282298239787446
Short 5th finger 0.282298239787446
Cubitus valgus 0.282298239787446
Optic disc hypoplasia 0.2739953503819329
Delayed cranial suture closure 0.2739953503819329
Foot polydactyly 0.2739953503819329
Short hallux 0.2739953503819329
Hydrocele testis 0.2739953503819329
Decreased body weight 0.2739953503819329
Abnormal social behavior 0.2739953503819329
Narrow naris 0.2656924609764198
Hand polydactyly 0.2656924609764198
Hypopigmentation of hair 0.2656924609764198
Broad toe 0.2656924609764198
Abnormal eyebrow morphology 0.2573895715709067
Short sternum 0.2573895715709067
Hypertension 0.2573895715709067
Bruxism 0.2573895715709067
Dysphagia 0.2573895715709067
Sleep apnea 0.2573895715709067
Ulnar deviation of finger 0.2573895715709067
Edema of the dorsum of hands 0.2573895715709067
Tremor 0.2573895715709067
Recurrent urinary tract infections 0.24908668216539354
Depressivity 0.24908668216539354
Narrow foot 0.24908668216539354
Preaxial hand polydactyly 0.24908668216539354
Medial flaring of the eyebrow 0.24908668216539354
Thin ear helix 0.24908668216539354
Hypomimic face 0.24908668216539354
Aplasia/Hypoplasia of the thumb 0.24908668216539354
Hirsutism 0.24908668216539354
Postnatal macrocephaly 0.24908668216539354
Patent foramen ovale 0.24908668216539354
Anal fistula 0.24908668216539354
Abnormality of the palpebral fissures 0.24078379275988046
Aganglionic megacolon 0.24078379275988046
Down-sloping shoulders 0.24078379275988046
Esotropia 0.24078379275988046
Generalized myoclonic seizure 0.24078379275988046
Autism with high cognitive abilities 0.24078379275988046
Abnormality of the hip joint 0.24078379275988046
Facial hypotonia 0.24078379275988046
Hip dysplasia 0.23248090335436733
Abnormal retinal morphology 0.23248090335436733
Hiatus hernia 0.23248090335436733
Muscle weakness 0.23248090335436733
Spastic diplegia 0.23248090335436733
Arachnoid cyst 0.23248090335436733
Cavernous hemangioma 0.23248090335436733
Hepatomegaly 0.23248090335436733
Gastrostomy tube feeding in infancy 0.23248090335436733
Abnormality of the parathyroid gland 0.23248090335436733
Bilateral cryptorchidism 0.23248090335436733
Dyslexia 0.23248090335436733
Psychomotor retardation 0.23248090335436733
Generalized tonic seizure 0.2241780139488542
Abnormality of the forehead 0.2241780139488542
Widow's peak 0.2241780139488542
Recurrent otitis media 0.2241780139488542
Bilateral ptosis 0.2241780139488542
Palpebral edema 0.2241780139488542
Polymicrogyria 0.2241780139488542
Knee flexion contracture 0.2241780139488542
Pierre-Robin sequence 0.2241780139488542
Glossoptosis 0.2158751245433411
Abnormality of the antihelix 0.2158751245433411
Bifid scrotum 0.2158751245433411
Protuberant abdomen 0.2158751245433411
Abnormality of skin pigmentation 0.2158751245433411
Microcornea 0.2158751245433411
Abnormal emotion/affect behavior 0.2158751245433411
Jaundice 0.2158751245433411
Osteoporosis 0.2158751245433411
Cupped ear 0.2158751245433411
Obsessive-compulsive behavior 0.2158751245433411
Brushfield spots 0.2158751245433411
Split hand 0.20757223513782797
Gynecomastia 0.20757223513782797
Abnormal sacrum morphology 0.20757223513782797
Prominent palatine ridges 0.20757223513782797
Long hallux 0.20757223513782797
Cystic hygroma 0.20757223513782797
Nail dysplasia 0.20757223513782797
Intellectual disability, profound 0.20757223513782797
Generalized joint laxity 0.20757223513782797
Bilateral sensorineural hearing impairment 0.20757223513782797
Abnormal eating behavior 0.20757223513782797
Chorioretinitis 0.20757223513782797
Precocious puberty in females 0.19926934573231483
Depressed nasal tip 0.19926934573231483
Ankyloglossia 0.19926934573231483
Ureteral duplication 0.19926934573231483
Abnormality of the female genitalia 0.19926934573231483
Arthritis 0.19926934573231483
Stridor 0.19926934573231483
Abnormality of the eye 0.19926934573231483
Tracheoesophageal fistula 0.19926934573231483
Narrow nasal ridge 0.19926934573231483
Intention tremor 0.19926934573231483
Polyphagia 0.19926934573231483
Abnormality of the liver 0.19926934573231483
Blindness 0.19926934573231483
Broad finger 0.19926934573231483
Unilateral ptosis 0.19926934573231483
Large forehead 0.19926934573231483
Childhood-onset truncal obesity 0.19926934573231483
Hemangioma 0.19926934573231483
Abnormality of the septum pellucidum 0.19926934573231483
Absent nipple 0.19096645632680173
Cerebellar hemisphere hypoplasia 0.19096645632680173
Median cleft lip 0.19096645632680173
Arrhythmia 0.19096645632680173
Arnold-Chiari malformation 0.19096645632680173
Abnormal hair pattern 0.19096645632680173
Vertebral fusion 0.19096645632680173
Ichthyosis 0.19096645632680173
Sparse eyelashes 0.19096645632680173
Aplasia/Hypoplasia of metatarsal bones 0.19096645632680173
Hypopigmentation of the skin 0.19096645632680173
Abnormality of finger 0.19096645632680173
Aplasia/Hypoplasia of the tongue 0.19096645632680173
Microretrognathia 0.19096645632680173
Few cafe-au-lait spots 0.19096645632680173
Cutis laxa 0.19096645632680173
Failure to thrive in infancy 0.19096645632680173
Anterior creases of earlobe 0.1826635669212886
Abnormality of the ribs 0.1826635669212886
Increased number of teeth 0.1826635669212886
Soft skin 0.1826635669212886
Renal neoplasm 0.1826635669212886
Abnormal fear/anxiety-related behavior 0.1826635669212886
Abnormality of the ear 0.1826635669212886
Enlarged kidney 0.1826635669212886
Agitation 0.1826635669212886
Schizophrenia 0.1826635669212886
Recurrent hand flapping 0.1826635669212886
Congenital nystagmus 0.17436067751577547
Abnormality of the voice 0.17436067751577547
Myoclonus 0.17436067751577547
Split foot 0.17436067751577547
Infra-orbital crease 0.17436067751577547
Retinoblastoma 0.17436067751577547
Chordee 0.17436067751577547
Radioulnar synostosis 0.17436067751577547
Meningocele 0.17436067751577547
Abnormality of the gallbladder 0.17436067751577547
Abnormality of the philtrum 0.17436067751577547
Aortic regurgitation 0.17436067751577547
Focal impaired awareness seizure 0.17436067751577547
Clitoral hypertrophy 0.17436067751577547
Receptive language delay 0.17436067751577547
Adrenal hypoplasia 0.17436067751577547
Posterior plagiocephaly 0.17436067751577547
Pain insensitivity 0.17436067751577547
Bilateral talipes equinovarus 0.17436067751577547
Mild microcephaly 0.17436067751577547
Fullness of paranasal tissue 0.17436067751577547
Localized hirsutism 0.16605778811026237
Abnormal iris pigmentation 0.16605778811026237
Abnormality of the male genitalia 0.16605778811026237
Tics 0.16605778811026237
Unilateral deafness 0.16605778811026237
Sparse lateral eyebrow 0.16605778811026237
Crumpled ear 0.16605778811026237
Anterior hypopituitarism 0.16605778811026237
Hypsarrhythmia 0.16605778811026237
Dyscalculia 0.16605778811026237
Poor motor coordination 0.16605778811026237
Sparse scalp hair 0.16605778811026237
Dental crowding 0.16605778811026237
Unilateral renal agenesis 0.16605778811026237
Wrist flexion contracture 0.16605778811026237
Dysgraphia 0.16605778811026237
Infantile muscular hypotonia 0.16605778811026237
Speech apraxia 0.16605778811026237
Pulmonary artery stenosis 0.16605778811026237
Precocious puberty 0.16605778811026237
Polysplenia 0.16605778811026237
Coxa valga 0.16605778811026237
Limitation of knee mobility 0.16605778811026237
Accelerated skeletal maturation 0.15775489870474926
Abnormal palate morphology 0.15775489870474926
Thick nasal alae 0.15775489870474926
Aplasia/Hypoplasia involving the metacarpal bones 0.15775489870474926
Duodenal atresia 0.15775489870474926
Duane anomaly 0.15775489870474926
Speech articulation difficulties 0.15775489870474926
Optic nerve coloboma 0.15775489870474926
Curly eyelashes 0.15775489870474926
Bilateral single transverse palmar creases 0.15775489870474926
Talipes 0.15775489870474926
Dry skin 0.15775489870474926
Progressive microcephaly 0.15775489870474926
Congenital hip dislocation 0.15775489870474926
Arnold-Chiari type I malformation 0.15775489870474926
Short finger 0.15775489870474926
Focal-onset seizure 0.15775489870474926
Kyphoscoliosis 0.15775489870474926
Heart murmur 0.15775489870474926
Enlarged naris 0.15775489870474926
Upper limb undergrowth 0.15775489870474926
Thin ribs 0.15775489870474926
Hypogonadism 0.14945200929923613
Thickened ears 0.14945200929923613
Pili torti 0.14945200929923613
Abnormality of the nail 0.14945200929923613
Abnormality of earlobe 0.14945200929923613
Dysphasia 0.14945200929923613
Asymmetry of the mouth 0.14945200929923613
Abnormality of the nose 0.14945200929923613
Abnormality of upper lip 0.14945200929923613
Hemiplegia 0.14945200929923613
Disproportionate short-limb short stature 0.14945200929923613
Renal cyst 0.14945200929923613
Secundum atrial septal defect 0.14945200929923613
Poor coordination 0.14945200929923613
Muscular hypotonia of the trunk 0.14945200929923613
Severe short stature 0.14945200929923613
Aplasia/Hypoplasia of the corpus callosum 0.14945200929923613
Single umbilical artery 0.14945200929923613
Abnormality of the cardiovascular system 0.14945200929923613
Abnormal aortic morphology 0.14945200929923613
Clinodactyly 0.14945200929923613
Abnormality of brain morphology 0.14945200929923613
Iris atrophy 0.141149119893723
Accessory oral frenulum 0.141149119893723
Vertebral segmentation defect 0.141149119893723
Nephrolithiasis 0.141149119893723
Abnormality of the mouth 0.141149119893723
Bifid nasal tip 0.141149119893723
Long phalanx of finger 0.141149119893723
Short nail 0.141149119893723
Avascular necrosis of the capital femoral epiphysis 0.141149119893723
Abnormality of the chin 0.141149119893723
Aplasia of the fingers 0.141149119893723
Hypoplasia of the radius 0.141149119893723
Abnormality of the nasal tip 0.141149119893723
Rhizomelic arm shortening 0.141149119893723
Congenital muscular torticollis 0.141149119893723
Dextrocardia 0.141149119893723
Abnormal esophagus morphology 0.141149119893723
Pulmonary arterial hypertension 0.141149119893723
High myopia 0.141149119893723
Thrombocytopenia 0.141149119893723
Cerebellar atrophy 0.141149119893723
Long nose 0.141149119893723
Overfolded helix 0.141149119893723
Thoracolumbar scoliosis 0.141149119893723
Dimple chin 0.141149119893723
Anteriorly placed anus 0.141149119893723
Cerebral palsy 0.141149119893723
Violent behavior 0.141149119893723
Hypogonadotropic hypogonadism 0.141149119893723
Small placenta 0.141149119893723
Abnormality of coordination 0.141149119893723
Antepartum hemorrhage 0.141149119893723
Anomalous pulmonary venous return 0.1328462304882099
Absence of the sacrum 0.1328462304882099
Fragile nails 0.1328462304882099
Abnormal CNS myelination 0.1328462304882099
Cyclopia 0.1328462304882099
Triphalangeal thumb 0.1328462304882099
Abnormality of the ureter 0.1328462304882099
Thin skin 0.1328462304882099
Gray matter heterotopia 0.1328462304882099
Rieger anomaly 0.1328462304882099
Abnormality of the lower limb 0.1328462304882099
Gait imbalance 0.1328462304882099
Epicanthus inversus 0.1328462304882099
Abnormal nasal bridge morphology 0.1328462304882099
Mitral stenosis 0.1328462304882099
Splenomegaly 0.1328462304882099
Exotropia 0.1328462304882099
Abnormal size of the palpebral fissures 0.1328462304882099
Lumbar hyperlordosis 0.1328462304882099
Deviated nasal septum 0.1328462304882099
Esophageal atresia 0.1328462304882099
Ascites 0.1328462304882099
Tented upper lip vermilion 0.1328462304882099
Poor eye contact 0.1328462304882099
Overweight 0.1328462304882099
Abnormal placenta morphology 0.1328462304882099
Osteochondroma 0.1328462304882099
Cat cry 0.1328462304882099
Aplasia/Hypoplasia of the cerebral white matter 0.1328462304882099
Impaired pain sensation 0.12454334108269677
Clubbing 0.12454334108269677
Abnormally low-pitched voice 0.12454334108269677
Aplasia cutis congenita of scalp 0.12454334108269677
Abnormality of the hand 0.12454334108269677
Abnormality of the vasculature 0.12454334108269677
White forelock 0.12454334108269677
Transposition of the great arteries 0.12454334108269677
Abnormality of the respiratory system 0.12454334108269677
Biliary atresia 0.12454334108269677
Aplasia/Hypoplasia of the ulna 0.12454334108269677
Anonychia 0.12454334108269677
Aplasia/Hypoplasia of the tibia 0.12454334108269677
Hyperextensibility at elbow 0.12454334108269677
Absent toe 0.12454334108269677
Branchial cyst 0.12454334108269677
Monocular strabismus 0.12454334108269677
Syringomyelia 0.12454334108269677
Neurological speech impairment 0.12454334108269677
Thoracic scoliosis 0.12454334108269677
Velopharyngeal insufficiency 0.12454334108269677
Enuresis nocturna 0.12454334108269677
Tip-toe gait 0.12454334108269677
Broad-based gait 0.12454334108269677
Amblyopia 0.12454334108269677
Cleft soft palate 0.12454334108269677
Developmental cataract 0.12454334108269677
Cardiomegaly 0.12454334108269677
Hypertrophic cardiomyopathy 0.12454334108269677
Moderate expressive language delay 0.12454334108269677
Chronic constipation 0.12454334108269677
Abnormal location of ears 0.12454334108269677
Phimosis 0.12454334108269677
Hypoplastic pelvis 0.12454334108269677
Primary amenorrhea 0.11624045167718366
Long neck 0.11624045167718366
Ridged cranial sutures 0.11624045167718366
Abnormality of the nasal septum 0.11624045167718366
Abnormal nipple morphology 0.11624045167718366
Abnormality of the antitragus 0.11624045167718366
Ectopia pupillae 0.11624045167718366
Disproportionate tall stature 0.11624045167718366
Single ventricle 0.11624045167718366
Striae distensae 0.11624045167718366
Hyperextensibility of the knee 0.11624045167718366
Moderately short stature 0.11624045167718366
Moderate postnatal growth retardation 0.11624045167718366
Sleep-wake cycle disturbance 0.11624045167718366
Restrictive behavior 0.11624045167718366
Periventricular leukomalacia 0.11624045167718366
Hyperreflexia 0.11624045167718366
Nasogastric tube feeding in infancy 0.11624045167718366
Memory impairment 0.11624045167718366
Small thenar eminence 0.11624045167718366
Short digit 0.11624045167718366
Mild expressive language delay 0.11624045167718366
Abnormal ventricular septum morphology 0.11624045167718366
Pes valgus 0.11624045167718366
Multifactorial inheritance 0.11624045167718366
Limb undergrowth 0.11624045167718366
Streak ovary 0.11624045167718366
Rod-cone dystrophy 0.10793756227167055
Urinary incontinence 0.10793756227167055
Abnormality of the gingiva 0.10793756227167055
Aqueductal stenosis 0.10793756227167055
Facial palsy 0.10793756227167055
Leukodystrophy 0.10793756227167055
Hyperextensibility at wrists 0.10793756227167055
Secondary amenorrhea 0.10793756227167055
Postaxial polydactyly 0.10793756227167055
Keratoconus 0.10793756227167055
2-3 toe cutaneous syndactyly 0.10793756227167055
Aphasia 0.10793756227167055
Meckel diverticulum 0.10793756227167055
Encephalopathy 0.10793756227167055
Oculomotor apraxia 0.10793756227167055
Mild intrauterine growth retardation 0.10793756227167055
Congenital sensorineural hearing impairment 0.10793756227167055
Multicystic kidney dysplasia 0.10793756227167055
Proportionate tall stature 0.10793756227167055
Gait ataxia 0.10793756227167055
Increased nuchal translucency 0.10793756227167055
Cervical C2/C3 vertebral fusion 0.10793756227167055
Large fontanelles 0.10793756227167055
Chronic otitis media 0.10793756227167055
Type I diabetes mellitus 0.10793756227167055
Abnormality of mesentery morphology 0.10793756227167055
Mitral valve prolapse 0.10793756227167055
Recurrent respiratory infections 0.10793756227167055
Wide anterior fontanel 0.10793756227167055
Optic nerve hypoplasia 0.10793756227167055
Clubbing of fingers 0.10793756227167055
Abnormal cranial nerve morphology 0.10793756227167055
Interrupted aortic arch 0.10793756227167055
Anteverted ears 0.10793756227167055
Epileptic encephalopathy 0.10793756227167055
Abnormal joint morphology 0.09963467286615742
Single median maxillary incisor 0.09963467286615742
Headache 0.09963467286615742
Abnormality of the mandible 0.09963467286615742
Heterochromia iridis 0.09963467286615742
Scapular winging 0.09963467286615742
Furrowed tongue 0.09963467286615742
Anophthalmia 0.09963467286615742
Acne 0.09963467286615742
Tricuspid stenosis 0.09963467286615742
Facial hirsutism 0.09963467286615742
Hip contracture 0.09963467286615742
Rhizomelic leg shortening 0.09963467286615742
Abnormality of the tongue 0.09963467286615742
Aplasia/Hypoplasia of the uvula 0.09963467286615742
Abnormal thorax morphology 0.09963467286615742
Lower limb undergrowth 0.09963467286615742
Short femur 0.09963467286615742
Broad nail 0.09963467286615742
Cerebral visual impairment 0.09963467286615742
Cleft lip 0.09963467286615742
Abnormality of the nares 0.09963467286615742
Toe clinodactyly 0.09963467286615742
Horizontal eyebrow 0.09963467286615742
Palpebral fissure narrowing on adduction 0.09963467286615742
Joint hyperflexibility 0.09963467286615742
Delayed social development 0.09963467286615742
Lethargy 0.09963467286615742
Parathyroid agenesis 0.09963467286615742
Abnormal delivery 0.09963467286615742
Weak cry 0.09963467286615742
Absent testis 0.0913317834606443
Neoplasm of the skin 0.0913317834606443
Aplasia/Hypoplasia of the breasts 0.0913317834606443
Aplasia of the uterus 0.0913317834606443
Vaginal atresia 0.0913317834606443
Macroorchidism 0.0913317834606443
Enuresis 0.0913317834606443
Short nasal septum 0.0913317834606443
Limited pronation/supination of forearm 0.0913317834606443
Precocious puberty in males 0.0913317834606443
Postaxial foot polydactyly 0.0913317834606443
Peters anomaly 0.0913317834606443
Cleft of alveolar ridge of maxilla 0.0913317834606443
Atresia of the external auditory canal 0.0913317834606443
Episodic vomiting 0.0913317834606443
Elbow dislocation 0.0913317834606443
Tetraplegia 0.0913317834606443
Abnormality of globe size 0.0913317834606443
Pulmonary insufficiency 0.0913317834606443
Anisocoria 0.0913317834606443
Abnormal cerebellum morphology 0.0913317834606443
Abnormality of the bladder 0.0913317834606443
Radial deviation of the hand 0.0913317834606443
Delayed CNS myelination 0.0913317834606443
Inappropriate laughter 0.0913317834606443
Oral cleft 0.0913317834606443
Tracheomalacia 0.0913317834606443
Unsteady gait 0.0913317834606443
Lower limb spasticity 0.0913317834606443
Arthrogryposis multiplex congenita 0.0913317834606443
Abnormality of the anus 0.0913317834606443
Partial agenesis of the corpus callosum 0.0913317834606443
Retinal detachment 0.0913317834606443
Multiple cafe-au-lait spots 0.0913317834606443
Frequent falls 0.0913317834606443
Opisthotonus 0.0913317834606443
High hypermetropia 0.0913317834606443
External ear malformation 0.0913317834606443
Short thorax 0.0913317834606443
Retinal coloboma 0.0913317834606443
Abnormal respiratory system physiology 0.0913317834606443
Vomiting 0.0913317834606443
Type II diabetes mellitus 0.0913317834606443
Bipolar affective disorder 0.0913317834606443
Aplasia of the premaxilla 0.0913317834606443
Hypertrophy of the urinary bladder 0.0913317834606443
Abnormal pupil morphology 0.08302889405513118
Brittle hair 0.08302889405513118
Lipodystrophy 0.08302889405513118
Aplasia of the nose 0.08302889405513118
Abnormal eyelid morphology 0.08302889405513118
Short hard palate 0.08302889405513118
Finger joint hypermobility 0.08302889405513118
Athetosis 0.08302889405513118
Broad columella 0.08302889405513118
Posterior helix pit 0.08302889405513118
Hyperkeratosis 0.08302889405513118
Diaphragmatic eventration 0.08302889405513118
Hypercalcemia 0.08302889405513118
Severe postnatal growth retardation 0.08302889405513118
Difficulty walking 0.08302889405513118
Bilateral cleft lip and palate 0.08302889405513118
Mild postnatal growth retardation 0.08302889405513118
Congenital hypothyroidism 0.08302889405513118
Hyperpigmentation of the skin 0.08302889405513118
Pachygyria 0.08302889405513118
Perimembranous ventricular septal defect 0.08302889405513118
Clinodactyly of the 5th toe 0.08302889405513118
Communicating hydrocephalus 0.08302889405513118
Dysplastic corpus callosum 0.08302889405513118
Patent ductus arteriosus after birth at term 0.08302889405513118
Impulsivity 0.08302889405513118
Tethered cord 0.08302889405513118
Poor gross motor coordination 0.08302889405513118
Knee dislocation 0.08302889405513118
Mild conductive hearing impairment 0.08302889405513118
Dilation of lateral ventricles 0.08302889405513118
Dilatation of the renal pelvis 0.08302889405513118
Dilated cardiomyopathy 0.08302889405513118
Abnormal corpus callosum morphology 0.08302889405513118
Psychomotor deterioration 0.08302889405513118
Aplasia of the ovary 0.08302889405513118
Narrow pelvis bone 0.08302889405513118
Hypoplastic ilia 0.08302889405513118
Abnormal ventriculoarterial connection 0.08302889405513118
Hypoplastic female external genitalia 0.08302889405513118
Thick nasal septum 0.07472600464961807
Aplasia/Hypoplasia of the abdominal wall musculature 0.07472600464961807
Neoplasm of the colon 0.07472600464961807
Slow-growing hair 0.07472600464961807
Ectropion 0.07472600464961807
Aplasia/Hypoplasia of the patella 0.07472600464961807
Abnormality of hair pigmentation 0.07472600464961807
Preaxial foot polydactyly 0.07472600464961807
Abnormal lung morphology 0.07472600464961807
Enlarged cisterna magna 0.07472600464961807
Abnormality of the cerebral white matter 0.07472600464961807
Abnormal shoulder morphology 0.07472600464961807
Abnormality iris morphology 0.07472600464961807
Symphalangism affecting the phalanges of the hand 0.07472600464961807
Abnormality of the genital system 0.07472600464961807
Cleft mandible 0.07472600464961807
Ovarian cyst 0.07472600464961807
Neonatal respiratory distress 0.07472600464961807
Hypercholesterolemia 0.07472600464961807
Urethral stenosis 0.07472600464961807
Radial deviation of finger 0.07472600464961807
Abnormal stomach morphology 0.07472600464961807
Bilateral conductive hearing impairment 0.07472600464961807
Periventricular heterotopia 0.07472600464961807
2-3 finger syndactyly 0.07472600464961807
Distal arthrogryposis 0.07472600464961807
Abnormal mitral valve morphology 0.07472600464961807
Mixed hearing impairment 0.07472600464961807
Proteinuria 0.07472600464961807
Clinodactyly of the 4th toe 0.07472600464961807
Lower limb hypertonia 0.07472600464961807
Lymphedema 0.07472600464961807
Hyperopic astigmatism 0.07472600464961807
Penile hypospadias 0.07472600464961807
Generalized ichthyosis 0.07472600464961807
Abnormal testis morphology 0.07472600464961807
Otitis media 0.07472600464961807
Repetitive compulsive behavior 0.07472600464961807
Cerebral calcification 0.07472600464961807
Thick vermilion border 0.07472600464961807
Supravalvular aortic stenosis 0.07472600464961807
Cortical dysplasia 0.07472600464961807
Anencephaly 0.07472600464961807
Oppositional defiant disorder 0.07472600464961807
Abnormality of movement 0.07472600464961807
Cerebellar vermis atrophy 0.07472600464961807
Narrow palpebral fissure 0.07472600464961807
Infantile spasms 0.07472600464961807
Partial duplication of the distal phalanx of the hallux 0.07472600464961807
Truncal ataxia 0.06642311524410495
Hyperextensible skin 0.06642311524410495
Abnormality of the small intestine 0.06642311524410495
Thyroglossal cyst 0.06642311524410495
Photophobia 0.06642311524410495
Eyelid coloboma 0.06642311524410495
Aplasia of the phalanges of the hand 0.06642311524410495
Abnormality of the periorbital region 0.06642311524410495
Absent septum pellucidum 0.06642311524410495
Abnormal abdomen morphology 0.06642311524410495
Pleural effusion 0.06642311524410495
Resting tremor 0.06642311524410495
Broad phalanges of the hand 0.06642311524410495
Megalocornea 0.06642311524410495
Hemihypertrophy 0.06642311524410495
Abnormality of the pancreas 0.06642311524410495
Pedal edema 0.06642311524410495
Nevus 0.06642311524410495
Hyperthyroidism 0.06642311524410495
Asymmetry of the nares 0.06642311524410495
Annular pancreas 0.06642311524410495
Abnormal vagina morphology 0.06642311524410495
Flat forehead 0.06642311524410495
Asymmetry of the mandible 0.06642311524410495
Clumsiness 0.06642311524410495
Skin tags 0.06642311524410495
Abnormality of the metacarpal bones 0.06642311524410495
Duodenal stenosis 0.06642311524410495
Abnormal renal morphology 0.06642311524410495
Recurrent lower respiratory tract infections 0.06642311524410495
Overfriendliness 0.06642311524410495
Abnormally folded helix 0.06642311524410495
Abnormality of the endocrine system 0.06642311524410495
Lack of peer relationships 0.06642311524410495
Hyperacusis 0.06642311524410495
Cleft upper lip 0.06642311524410495
Glandular hypospadias 0.06642311524410495
Corpus callosum atrophy 0.06642311524410495
Abnormality of the skeletal system 0.06642311524410495
Skeletal dysplasia 0.06642311524410495
Madelung deformity 0.06642311524410495
Hemifacial hypoplasia 0.06642311524410495
Thoracic kyphosis 0.06642311524410495
Natal tooth 0.06642311524410495
Square face 0.06642311524410495
Hypoplastic toenails 0.06642311524410495
Craniofacial asymmetry 0.06642311524410495
Poor suck 0.06642311524410495
Triangular mouth 0.06642311524410495
3-4 finger syndactyly 0.06642311524410495
Unilateral cleft lip 0.06642311524410495
Wormian bones 0.06642311524410495
Median cleft palate 0.06642311524410495
Postural instability 0.06642311524410495
Ectopic kidney 0.06642311524410495
Congenital ptosis 0.06642311524410495
Motor tics 0.06642311524410495
Severe receptive language delay 0.06642311524410495
Irritability 0.06642311524410495
Cerebellar cyst 0.06642311524410495
Oral-pharyngeal dysphagia 0.06642311524410495
Unilateral cryptorchidism 0.06642311524410495
Sleep terror 0.06642311524410495
Delayed ability to walk 0.06642311524410495
Abnormal ossification of the pubic bone 0.06642311524410495
Mesomelic arm shortening 0.06642311524410495
Abnormal shape of the occiput 0.06642311524410495
Abnormality of blood and blood-forming tissues 0.06642311524410495
Diminished ability to concentrate 0.06642311524410495
Persistence of primary teeth 0.05812022583859183
Fused labia minora 0.05812022583859183
Hyperhidrosis 0.05812022583859183
Varicose veins 0.05812022583859183
Malabsorption 0.05812022583859183
Bifid tongue 0.05812022583859183
Platyspondyly 0.05812022583859183
Abnormality of hair texture 0.05812022583859183
Anosmia 0.05812022583859183
Multiple lipomas 0.05812022583859183
Small hypothenar eminence 0.05812022583859183
Abnormality of the hip bone 0.05812022583859183
Abnormal finger phalanx morphology 0.05812022583859183
Prolonged neonatal jaundice 0.05812022583859183
Abnormal anterior chamber morphology 0.05812022583859183
Patellar dislocation 0.05812022583859183
Concave nail 0.05812022583859183
Abnormality of skull ossification 0.05812022583859183
Genu varum 0.05812022583859183
Prominent superficial blood vessels 0.05812022583859183
Congenital bilateral ptosis 0.05812022583859183
Tibial bowing 0.05812022583859183
Femoral bowing 0.05812022583859183
Hypoplasia of teeth 0.05812022583859183
Skeletal muscle atrophy 0.05812022583859183
Hepatic steatosis 0.05812022583859183
Absent nasal septal cartilage 0.05812022583859183
Acanthosis nigricans 0.05812022583859183
Abnormality of extrapyramidal motor function 0.05812022583859183
Thick hair 0.05812022583859183
Increased laxity of fingers 0.05812022583859183
Abnormality of male external genitalia 0.05812022583859183
Impaired ability to form peer relationships 0.05812022583859183
Early onset of sexual maturation 0.05812022583859183
Polycystic kidney dysplasia 0.05812022583859183
Choanal stenosis 0.05812022583859183
Cystinuria 0.05812022583859183
Hypoplasia of dental enamel 0.05812022583859183
Eversion of lateral third of lower eyelids 0.05812022583859183
Apnea 0.05812022583859183
Aplasia/Hypoplasia of the clavicles 0.05812022583859183
Premature ovarian insufficiency 0.05812022583859183
Narrow face 0.05812022583859183
Neonatal hypoglycemia 0.05812022583859183
Limb hypertonia 0.05812022583859183
Hitchhiker thumb 0.05812022583859183
Mild receptive language delay 0.05812022583859183
Moderate intrauterine growth retardation 0.05812022583859183
Entropion 0.05812022583859183
Small earlobe 0.05812022583859183
Spastic tetraparesis 0.05812022583859183
Bilateral tonic-clonic seizure with focal onset 0.05812022583859183
Prominent crus of helix 0.05812022583859183
Cystic renal dysplasia 0.05812022583859183
Developmental glaucoma 0.05812022583859183
Anorexia 0.05812022583859183
Syndactyly 0.05812022583859183
Cerebral cortical atrophy 0.05812022583859183
Patent ductus arteriosus after premature birth 0.05812022583859183
Abnormality of lower lip 0.05812022583859183
Aplasia/Hypoplasia of the hallux 0.05812022583859183
Hyperinsulinemia 0.05812022583859183
Hyperkinetic movements 0.05812022583859183
Profound global developmental delay 0.05812022583859183
Abnormal sternum morphology 0.05812022583859183
Short corpus callosum 0.05812022583859183
Polydactyly 0.05812022583859183
Myelomeningocele 0.05812022583859183
Abnormality of the optic nerve 0.05812022583859183
Severe hearing impairment 0.05812022583859183
Camptodactyly 0.05812022583859183
Thick corpus callosum 0.05812022583859183
Bruising susceptibility 0.05812022583859183
Abnormal retinal vascular morphology 0.05812022583859183
Myopic astigmatism 0.05812022583859183
Situs inversus totalis 0.05812022583859183
Abnormality of the abdominal wall 0.05812022583859183
Aplasia of metacarpal bones 0.05812022583859183
Short umbilical cord 0.05812022583859183
Pulmonary artery hypoplasia 0.05812022583859183
Pregnancy exposure 0.05812022583859183
Abnormal skull morphology 0.04981733643307871
Neurofibromas 0.04981733643307871
Metacarpal synostosis 0.04981733643307871
Abnormality of the nasal alae 0.04981733643307871
Axillary freckling 0.04981733643307871
Frontal balding 0.04981733643307871
Aplasia/hypoplasia of the humerus 0.04981733643307871
Abnormality of the musculature 0.04981733643307871
Abnormality of the spleen 0.04981733643307871
Hypoplastic scapulae 0.04981733643307871
Abnormal cornea morphology 0.04981733643307871
Hypoparathyroidism 0.04981733643307871
Abnormal duodenum morphology 0.04981733643307871
Urethral valve 0.04981733643307871
Abnormal circulating lipid concentration 0.04981733643307871
Abnormal clavicle morphology 0.04981733643307871
Abnormal muscle tone 0.04981733643307871
Abnormality of the nervous system 0.04981733643307871
Simple febrile seizure 0.04981733643307871
Anterior pituitary agenesis 0.04981733643307871
Pectus excavatum of inferior sternum 0.04981733643307871
Morphological central nervous system abnormality 0.04981733643307871
Malar prominence 0.04981733643307871
Abnormality of the middle ear ossicles 0.04981733643307871
Delayed eruption of primary teeth 0.04981733643307871
Poor appetite 0.04981733643307871
Hypoplastic nasal bridge 0.04981733643307871
Short 4th metacarpal 0.04981733643307871
Macrodontia of permanent maxillary central incisor 0.04981733643307871
Abnormality of eye movement 0.04981733643307871
Oromotor apraxia 0.04981733643307871
Restlessness 0.04981733643307871
Vascular dilatation 0.04981733643307871
Spastic tetraplegia 0.04981733643307871
Abnormality of pelvic girdle bone morphology 0.04981733643307871
Periauricular skin pits 0.04981733643307871
Status epilepticus 0.04981733643307871
Broad lateral eyebrow 0.04981733643307871
Abnormality of the vertebral column 0.04981733643307871
Myopathy 0.04981733643307871
Short lingual frenulum 0.04981733643307871
Delayed ossification of carpal bones 0.04981733643307871
Anemia 0.04981733643307871
Impaired mastication 0.04981733643307871
Excessive daytime somnolence 0.04981733643307871
Bowel incontinence 0.04981733643307871
Toenail dysplasia 0.04981733643307871
Shyness 0.04981733643307871
Moderate receptive language delay 0.04981733643307871
Abnormally large globe 0.04981733643307871
Abnormal atrial septum morphology 0.04981733643307871
Insomnia 0.04981733643307871
Unilateral narrow palpebral fissure 0.04981733643307871
Preaxial polydactyly 0.04981733643307871
Congenital conductive hearing impairment 0.04981733643307871
Fetal pyelectasis 0.04981733643307871
Male hypogonadism 0.04981733643307871
Periorbital edema 0.04981733643307871
Large fleshy ears 0.04981733643307871
Easy fatigability 0.04981733643307871
Pelvic kidney 0.04981733643307871
Severe intrauterine growth retardation 0.04981733643307871
Positional foot deformity 0.04981733643307871
Cyanosis 0.04981733643307871
Conotruncal defect 0.04981733643307871
Chorioretinal coloboma 0.04981733643307871
Ambiguous genitalia, male 0.04981733643307871
Hydrops fetalis 0.04981733643307871
Growth abnormality 0.04981733643307871
Neurodevelopmental abnormality 0.04981733643307871
Perisylvian polymicrogyria 0.04981733643307871
Abnormality of limbs 0.04981733643307871
Stereotypical hand wringing 0.04981733643307871
Elevated serum creatine kinase 0.04981733643307871
Renal insufficiency 0.04981733643307871
Cleft hard palate 0.04981733643307871
Toe walking 0.04981733643307871
Flat face 0.04981733643307871
Slender long bone 0.04981733643307871
Extra fontanelles 0.04981733643307871
Congenital pseudoarthrosis of the clavicle 0.04981733643307871
Occipital encephalocele 0.04981733643307871
Neuroblastoma 0.04981733643307871
Prominence of the premaxilla 0.04981733643307871
Upper limb asymmetry 0.04981733643307871
Abnormality of the calvaria 0.04981733643307871
Small sella turcica 0.04151444702756559
Abdominal situs inversus 0.04151444702756559
Ebstein anomaly of the tricuspid valve 0.04151444702756559
Abnormal metatarsal morphology 0.04151444702756559
Mesomelic leg shortening 0.04151444702756559
Abnormal hair morphology 0.04151444702756559
Peripheral arterial stenosis 0.04151444702756559
Persistent pupillary membrane 0.04151444702756559
Distal muscle weakness 0.04151444702756559
Abnormality of the midface 0.04151444702756559
Abnormality of the maxilla 0.04151444702756559
Abnormality of the upper limb 0.04151444702756559
Widely spaced toes 0.04151444702756559
Multiple joint dislocation 0.04151444702756559
Limited shoulder movement 0.04151444702756559
Myopathic facies 0.04151444702756559
Cleft helix 0.04151444702756559
Vertical nystagmus 0.04151444702756559
Cerebral hemorrhage 0.04151444702756559
Abnormality of the neck 0.04151444702756559
Long penis 0.04151444702756559
Abnormal bleeding 0.04151444702756559
Buphthalmos 0.04151444702756559
Spina bifida 0.04151444702756559
Reduced number of teeth 0.04151444702756559
Abnormality of calvarial morphology 0.04151444702756559
Chorea 0.04151444702756559
Hypermobility of toe joints 0.04151444702756559
Abnormality of higher mental function 0.04151444702756559
Caudal appendage 0.04151444702756559
Abnormality of the adrenal glands 0.04151444702756559
Anotia 0.04151444702756559
EEG with focal epileptiform discharges 0.04151444702756559
Abnormality of the hallux 0.04151444702756559
Spastic paraparesis 0.04151444702756559
Short columella 0.04151444702756559
Curly hair 0.04151444702756559
Abnormality of the tragus 0.04151444702756559
Cutaneous syndactyly of toes 0.04151444702756559
Hypopigmented skin patches 0.04151444702756559
Abnormality of the urinary system 0.04151444702756559
Abnormal penis morphology 0.04151444702756559
Abnormal digit morphology 0.04151444702756559
Sagittal craniosynostosis 0.04151444702756559
Redundant skin 0.04151444702756559
Porencephalic cyst 0.04151444702756559
Rhizomelia 0.04151444702756559
Infantile encephalopathy 0.04151444702756559
Excessive wrinkling of palmar skin 0.04151444702756559
Supraventricular tachycardia 0.04151444702756559
Recurrent upper respiratory tract infections 0.04151444702756559
Contracture of the proximal interphalangeal joint of the 5th finger 0.04151444702756559
Alopecia 0.04151444702756559
Inferior vermis hypoplasia 0.04151444702756559
Abnormal cardiac septum morphology 0.04151444702756559
Exaggerated startle response 0.04151444702756559
Agenesis of permanent teeth 0.04151444702756559
Right aortic arch 0.04151444702756559
Metaphyseal dysplasia 0.04151444702756559
Duplicated collecting system 0.04151444702756559
Moderate sensorineural hearing impairment 0.04151444702756559
Ventricular hypertrophy 0.04151444702756559
Abnormality of the cerebral cortex 0.04151444702756559
Lower limb hyperreflexia 0.04151444702756559
Blue irides 0.04151444702756559
Ectodermal dysplasia 0.04151444702756559
Butterfly vertebrae 0.04151444702756559
Anal stenosis 0.04151444702756559
Aplasia/Hypoplasia of the nails 0.04151444702756559
Lumbosacral hirsutism 0.04151444702756559
Fair hair 0.04151444702756559
Muscular ventricular septal defect 0.04151444702756559
Hallucinations 0.04151444702756559
Submucous cleft soft palate 0.04151444702756559
Chronic diarrhea 0.04151444702756559
Widely spaced primary teeth 0.04151444702756559
Rib fusion 0.04151444702756559
Abnormality of visual evoked potentials 0.04151444702756559
Atonic seizure 0.04151444702756559
Diffuse cerebellar atrophy 0.04151444702756559
Hypodysplasia of the corpus callosum 0.04151444702756559
Generalized hypopigmentation 0.04151444702756559
Prominent nasal tip 0.04151444702756559
Mild fetal ventriculomegaly 0.04151444702756559
Multiple skeletal anomalies 0.04151444702756559
Abnormal pyramidal sign 0.04151444702756559
Unilateral microphthalmos 0.04151444702756559
Glue ear 0.04151444702756559
Bilateral microphthalmos 0.04151444702756559
Metopic synostosis 0.04151444702756559
Short middle phalanx of finger 0.04151444702756559
Mild neurosensory hearing impairment 0.04151444702756559
Intermittent hyperventilation 0.04151444702756559
Prelingual sensorineural hearing impairment 0.04151444702756559
Aplasia/Hypoplasia of the cerebellar vermis 0.04151444702756559
Impaired visuospatial constructive cognition 0.04151444702756559
Abnormal external genitalia 0.04151444702756559
Ascending tubular aorta aneurysm 0.04151444702756559
Abnormality of the cochlear nerve 0.04151444702756559
Profound sensorineural hearing impairment 0.04151444702756559
Laryngotracheomalacia 0.04151444702756559
Abnormality of the genitourinary system 0.04151444702756559
Generalized muscle weakness 0.04151444702756559
Phonic tics 0.04151444702756559
Lower limb asymmetry 0.04151444702756559
Upper limb hypertonia 0.04151444702756559
Immunodeficiency 0.04151444702756559
Abnormal hand morphology 0.04151444702756559
Psoriasiform dermatitis 0.04151444702756559
Psychotic episodes 0.04151444702756559
Dysmetria 0.04151444702756559
Nevus flammeus 0.04151444702756559
Hyperpigmented/hypopigmented macules 0.04151444702756559
Bradycardia 0.04151444702756559
Tetraparesis 0.04151444702756559
Esodeviation 0.04151444702756559
Blepharitis 0.04151444702756559
Delayed myelination 0.04151444702756559
Mutism 0.04151444702756559
Delayed ability to sit 0.04151444702756559
Encopresis 0.04151444702756559
Limited wrist movement 0.04151444702756559
Placental infarction 0.04151444702756559
Wide pubic symphysis 0.04151444702756559
Increased fetal movement 0.04151444702756559
Adipose tissue loss 0.04151444702756559
Abnormality of epiphysis morphology 0.04151444702756559
Abnormality of the umbilical cord 0.04151444702756559
Abnormal central sensory function 0.04151444702756559
Aplasia/Hypoplasia of the skin 0.033211557622052475
Abnormality of the hypothalamus-pituitary axis 0.033211557622052475
Achalasia 0.033211557622052475
Osseous finger syndactyly 0.033211557622052475
Carpal synostosis 0.033211557622052475
Conjunctivitis 0.033211557622052475
Multiple exostoses 0.033211557622052475
Encephalocele 0.033211557622052475
Adrenogenital syndrome 0.033211557622052475
Prematurely aged appearance 0.033211557622052475
Optic nerve glioma 0.033211557622052475
Multiple pulmonary cysts 0.033211557622052475
Renal tubular acidosis 0.033211557622052475
Abnormality of thalamus morphology 0.033211557622052475
Facial tics 0.033211557622052475
Enlarged joints 0.033211557622052475
Hypohidrosis 0.033211557622052475
Thickened skin 0.033211557622052475
Abnormal large intestine morphology 0.033211557622052475
Cutis gyrata of scalp 0.033211557622052475
Sprengel anomaly 0.033211557622052475
Bimanual synkinesia 0.033211557622052475
Absent palmar crease 0.033211557622052475
Myotonia 0.033211557622052475
Subdural hemorrhage 0.033211557622052475
Goiter 0.033211557622052475
Limbal dermoid 0.033211557622052475
Nephroblastoma 0.033211557622052475
Broad chin 0.033211557622052475
Abnormality of the cheek 0.033211557622052475
Cleft lower lip 0.033211557622052475
Episodic ataxia 0.033211557622052475
Abnormality of the diaphragm 0.033211557622052475
Short long bone 0.033211557622052475
Sunken cheeks 0.033211557622052475
Inappropriate sexual behavior 0.033211557622052475
Respiratory failure 0.033211557622052475
Rectovaginal fistula 0.033211557622052475
Aplasia cutis congenita 0.033211557622052475
Slanting of the palpebral fissure 0.033211557622052475
Neutropenia 0.033211557622052475
Premature thelarche 0.033211557622052475
Progressive macrocephaly 0.033211557622052475
Abnormality of periauricular region 0.033211557622052475
Abnormal lip morphology 0.033211557622052475
Hypoplastic helices 0.033211557622052475
Postural tremor 0.033211557622052475
Short 5th metacarpal 0.033211557622052475
Ambiguous genitalia 0.033211557622052475
Developmental stagnation 0.033211557622052475
Abnormality of the inner ear 0.033211557622052475
U-Shaped upper lip vermilion 0.033211557622052475
Advanced eruption of teeth 0.033211557622052475
Sensory impairment 0.033211557622052475
Overfolding of the superior helices 0.033211557622052475
Clinodactyly of the 3rd toe 0.033211557622052475
Brisk reflexes 0.033211557622052475
Lactose intolerance 0.033211557622052475
Abnormality of retinal pigmentation 0.033211557622052475
Radial club hand 0.033211557622052475
Aplasia/Hypoplasia of the distal phalanges of the toes 0.033211557622052475
Ectropion of lower eyelids 0.033211557622052475
Abnormal lacrimal duct morphology 0.033211557622052475
Birth length less than 3rd percentile 0.033211557622052475
Cone-shaped epiphyses of the phalanges of the hand 0.033211557622052475
Hypertrophy of the lower limb 0.033211557622052475
Short distal phalanx of finger 0.033211557622052475
Narrow nose 0.033211557622052475
Fetal cystic hygroma 0.033211557622052475
Parietal foramina 0.033211557622052475
Delayed eruption of permanent teeth 0.033211557622052475
Abnormality of the elbow 0.033211557622052475
Gliosis 0.033211557622052475
Thickened helices 0.033211557622052475
Recurrent pneumonia 0.033211557622052475
Patent urachus 0.033211557622052475
Inflexible adherence to routines or rituals 0.033211557622052475
Peripheral neuropathy 0.033211557622052475
Achilles tendon contracture 0.033211557622052475
Abnormality of the forearm 0.033211557622052475
Everted upper lip vermilion 0.033211557622052475
Short nasal bridge 0.033211557622052475
Spinal dysraphism 0.033211557622052475
Complex febrile seizure 0.033211557622052475
Gait apraxia 0.033211557622052475
Horizontal nystagmus 0.033211557622052475
Fifth finger distal phalanx clinodactyly 0.033211557622052475
Thickened calvaria 0.033211557622052475
Abnormality of the frontal hairline 0.033211557622052475
Retinal dystrophy 0.033211557622052475
Numerous nevi 0.033211557622052475
Nephrocalcinosis 0.033211557622052475
Childhood onset sensorineural hearing impairment 0.033211557622052475
Abnormality of neuronal migration 0.033211557622052475
Hypermelanotic macule 0.033211557622052475
Muscular dystrophy 0.033211557622052475
Vitiligo 0.033211557622052475
Short fourth metatarsal 0.033211557622052475
Underfolded helix 0.033211557622052475
Generalized hypertrichosis 0.033211557622052475
Loss of speech 0.033211557622052475
Abnormal number of hair whorls 0.033211557622052475
Leukopenia 0.033211557622052475
Corneal opacity 0.033211557622052475
Increased number of skin folds 0.033211557622052475
Increased thyroid-stimulating hormone level 0.033211557622052475
Vertigo 0.033211557622052475
Clubbing of toes 0.033211557622052475
Small anterior fontanelle 0.033211557622052475
Bilateral postaxial polydactyly 0.033211557622052475
Hypoplastic male external genitalia 0.033211557622052475
Personality disorder 0.033211557622052475
Broad eyebrow 0.033211557622052475
Acute lymphoblastic leukemia 0.033211557622052475
Overhanging nasal tip 0.033211557622052475
Severe failure to thrive 0.033211557622052475
Weight loss 0.033211557622052475
Cholestasis 0.033211557622052475
Diastema 0.033211557622052475
Hyporeflexia 0.033211557622052475
Superior pectus carinatum 0.033211557622052475
Infancy onset short-trunk short stature 0.033211557622052475
4-5 toe syndactyly 0.033211557622052475
Skull asymmetry 0.033211557622052475
Exocrine pancreatic insufficiency 0.033211557622052475
Median cleft lip and palate 0.033211557622052475
Respiratory insufficiency 0.033211557622052475
Migraine 0.033211557622052475
Hypergonadotropic hypogonadism 0.033211557622052475
Arthralgia 0.033211557622052475
Ischemic stroke 0.033211557622052475
Obstructive sleep apnea 0.033211557622052475
Decreased skull ossification 0.033211557622052475
Congestive heart failure 0.033211557622052475
Decreased circulating cortisol level 0.033211557622052475
Presacral teratoma 0.033211557622052475
Aplasia/Hypoplasia of the sacrum 0.033211557622052475
Alternating esotropia 0.033211557622052475
Severe sensorineural hearing impairment 0.033211557622052475
Narrow nail 0.033211557622052475
Radial bowing 0.033211557622052475
Bradykinesia 0.033211557622052475
Head tremor 0.033211557622052475
Colpocephaly 0.033211557622052475
Abnormality of the pituitary gland 0.033211557622052475
Megacystis 0.033211557622052475
Metatarsus valgus 0.033211557622052475
Abnormal shape of the frontal region 0.033211557622052475
Perivascular spaces 0.033211557622052475
Metabolic acidosis 0.033211557622052475
Sleep onset Insomnia 0.033211557622052475
Retractile testis 0.033211557622052475
Mood changes 0.033211557622052475
Systolic heart murmur 0.033211557622052475
Broad clavicles 0.033211557622052475
Short ribs 0.033211557622052475
Gonadal dysgenesis 0.033211557622052475
Sacrococcygeal pilonidal abnormality 0.033211557622052475
Epiphyseal dysplasia 0.033211557622052475
Extension of eyebrows towards upper eyelid 0.033211557622052475
Abnormal autonomic nervous system physiology 0.033211557622052475
Impaired toileting ability 0.033211557622052475
Partial anomalous pulmonary venous return 0.024908668216539354
Osteopoikilosis 0.024908668216539354
Vestibular dysfunction 0.024908668216539354
Cutaneous photosensitivity 0.024908668216539354
Abnormality of the tarsal bones 0.024908668216539354
Abnormality of the breast 0.024908668216539354
Hallux varus 0.024908668216539354
Facial cleft 0.024908668216539354
Neoplasm of the central nervous system 0.024908668216539354
Naevus flammeus of the eyelid 0.024908668216539354
Abnormality of macular pigmentation 0.024908668216539354
Temporal cortical atrophy 0.024908668216539354
Abnormality of cranial sutures 0.024908668216539354
Increased serum lactate 0.024908668216539354
Excessive wrinkled skin 0.024908668216539354
Abnormality of the ilium 0.024908668216539354
Abnormally lax or hyperextensible skin 0.024908668216539354
Underdeveloped crus of the helix 0.024908668216539354
Abnormality of the glabella 0.024908668216539354
Absent hand 0.024908668216539354
Meningioma 0.024908668216539354
Aplasia/Hypoplasia involving the carpal bones 0.024908668216539354
Central diabetes insipidus 0.024908668216539354
Midline defect of the nose 0.024908668216539354
Urethral fistula 0.024908668216539354
Iris hypopigmentation 0.024908668216539354
Abnormality of the choroid plexus 0.024908668216539354
Abnormal cochlea morphology 0.024908668216539354
Hematological neoplasm 0.024908668216539354
Inability to walk 0.024908668216539354
Fibular bowing 0.024908668216539354
Abnormality of secondary sexual hair 0.024908668216539354
Alopecia of scalp 0.024908668216539354
Aplasia/Hypoplasia involving the nose 0.024908668216539354
Abnormal peripheral nervous system morphology 0.024908668216539354
Abnormal motor neuron morphology 0.024908668216539354
Developmental stagnation at onset of seizures 0.024908668216539354
Multifocal epileptiform discharges 0.024908668216539354
Frontoparietal polymicrogyria 0.024908668216539354
Excessive salivation 0.024908668216539354
Severe generalized osteoporosis 0.024908668216539354
Deep-set nails 0.024908668216539354
Short 1st metacarpal 0.024908668216539354
Abnormal brainstem morphology 0.024908668216539354
Aplasia/Hypoplasia of the cerebellum 0.024908668216539354
Focal aware seizure 0.024908668216539354
Hyperextensible hand joints 0.024908668216539354
Disproportionate short-trunk short stature 0.024908668216539354
Abnormality of limb bone morphology 0.024908668216539354
Symptomatic seizures 0.024908668216539354
Progressive language deterioration 0.024908668216539354
Abnormality of the spinal cord 0.024908668216539354
Hypoplasia of right ventricle 0.024908668216539354
Atrioventricular block 0.024908668216539354
Severe muscular hypotonia 0.024908668216539354
Abnormal scapula morphology 0.024908668216539354
Fused cervical vertebrae 0.024908668216539354
Incomprehensible speech 0.024908668216539354
Interictal epileptiform activity 0.024908668216539354
Slurred speech 0.024908668216539354
Optic disc pallor 0.024908668216539354
3-4 toe syndactyly 0.024908668216539354
Nocturnal hypoventilation 0.024908668216539354
Spontaneous neonatal pneumothorax 0.024908668216539354
Horizontal crus of helix 0.024908668216539354
Fragile skin 0.024908668216539354
Pectoral muscle hypoplasia/aplasia 0.024908668216539354
Moyamoya phenomenon 0.024908668216539354
Nail dystrophy 0.024908668216539354
Bilateral camptodactyly 0.024908668216539354
Ectopia lentis 0.024908668216539354
Bicornuate uterus 0.024908668216539354
Yellow-brown discoloration of the teeth 0.024908668216539354
Aplasia/Hypoplasia of the optic nerve 0.024908668216539354
Aplasia/Hypoplasia of the external ear 0.024908668216539354
Recurrent fractures 0.024908668216539354
Shortening of all distal phalanges of the fingers 0.024908668216539354
Choroid plexus cyst 0.024908668216539354
Impaired use of nonverbal behaviors 0.024908668216539354
Breathing dysregulation 0.024908668216539354
Urinary urgency 0.024908668216539354
Spontaneous pneumothorax 0.024908668216539354
Intracranial cystic lesion 0.024908668216539354
Aplastic/hypoplastic toenail 0.024908668216539354
Subvalvular aortic stenosis 0.024908668216539354
Chorioretinal atrophy 0.024908668216539354
Myoclonic spasms 0.024908668216539354
Long uvula 0.024908668216539354
Increased susceptibility to fractures 0.024908668216539354
Branchial anomaly 0.024908668216539354
Focal myoclonic seizure 0.024908668216539354
Long thorax 0.024908668216539354
Abnormal intestine morphology 0.024908668216539354
Abnormality of the wrist 0.024908668216539354
Global brain atrophy 0.024908668216539354
Absent cupid's bow 0.024908668216539354
Arthrogryposis-like hand anomaly 0.024908668216539354
Abnormality of refraction 0.024908668216539354
Decreased circulating IgA level 0.024908668216539354
Patchy hypopigmentation of hair 0.024908668216539354
Generalized hyperreflexia 0.024908668216539354
Marked delay in bone age 0.024908668216539354
Abnormal elasticity of skin 0.024908668216539354
Microscopic hematuria 0.024908668216539354
Camptodactyly of toe 0.024908668216539354
Pear-shaped nose 0.024908668216539354
Ureteropelvic junction obstruction 0.024908668216539354
Hypercalciuria 0.024908668216539354
Aplasia/hypoplasia of the femur 0.024908668216539354
Abnormal number of teeth 0.024908668216539354
Long eyebrows 0.024908668216539354
Broad uvula 0.024908668216539354
Nasal, dysarthic speech 0.024908668216539354
Cerebellar ataxia associated with quadrupedal gait 0.024908668216539354
Aplasia cutis congenita over the scalp vertex 0.024908668216539354
Obsessive-compulsive trait 0.024908668216539354
Broad distal phalanx of finger 0.024908668216539354
Hypoplastic superior helix 0.024908668216539354
Melanocytic nevus 0.024908668216539354
Hypokinesia 0.024908668216539354
Spastic paraplegia 0.024908668216539354
Hypersomnia 0.024908668216539354
Hand tremor 0.024908668216539354
Limited elbow extension 0.024908668216539354
Irregular menstruation 0.024908668216539354
Abnormal atrioventricular connection 0.024908668216539354
Hemiparesis 0.024908668216539354
Linear hyperpigmentation 0.024908668216539354
Pica 0.024908668216539354
Immunologic hypersensitivity 0.024908668216539354
Normal pressure hydrocephalus 0.024908668216539354
Finger syndactyly 0.024908668216539354
Overbite 0.024908668216539354
Abnormality of thumb phalanx 0.024908668216539354
Mildly elevated creatine kinase 0.024908668216539354
Left ventricular hypertrophy 0.024908668216539354
Gastroschisis 0.024908668216539354
Thyroid agenesis 0.024908668216539354
Bronchomalacia 0.024908668216539354
Brain atrophy 0.024908668216539354
Inappropriate crying 0.024908668216539354
Vascular ring 0.024908668216539354
Abnormal nasal morphology 0.024908668216539354
Intestinal pseudo-obstruction 0.024908668216539354
Volvulus 0.024908668216539354
Low insertion of columella 0.024908668216539354
Ectrodactyly 0.024908668216539354
Frequent temper tantrums 0.024908668216539354
Mood swings 0.024908668216539354
Subcutaneous lipoma 0.024908668216539354
Intracranial hemorrhage 0.024908668216539354
Asymmetric ventricles 0.024908668216539354
Albinism 0.024908668216539354
Ocular albinism 0.024908668216539354
Tricuspid atresia 0.024908668216539354
Gerbode ventricular septal defect 0.024908668216539354
Abnormal aortic valve morphology 0.024908668216539354
Breast carcinoma 0.024908668216539354
Stage 5 chronic kidney disease 0.024908668216539354
Abnormal umbilical cord blood vessels 0.024908668216539354
Dysplastic aortic valve 0.024908668216539354
Hemiatrophy 0.024908668216539354
Hypoplastic sacral vertebrae 0.024908668216539354
Lumbar hypertrichosis 0.024908668216539354
Postaxial polysyndactyly of foot 0.024908668216539354
Bilateral choanal atresia 0.024908668216539354
Hypotension 0.024908668216539354
Abnormality of the upper urinary tract 0.024908668216539354
Cerebellar dysplasia 0.024908668216539354
Hyperventilation 0.024908668216539354
Abnormality of the metopic suture 0.024908668216539354
Double outlet right ventricle 0.024908668216539354
Abnormality of mouth shape 0.024908668216539354
Enlarged thorax 0.024908668216539354
Spinal rigidity 0.024908668216539354
Myoclonic absence seizure 0.024908668216539354
Transient neonatal diabetes mellitus 0.024908668216539354
Peripheral pulmonary artery stenosis 0.024908668216539354
Hepatosplenomegaly 0.024908668216539354
Hypomelanotic macule 0.024908668216539354
Aplasia/Hypoplasia of the fibula 0.024908668216539354
Abnormality of upper lip vermillion 0.024908668216539354
Aortic aneurysm 0.024908668216539354
Cleft anterior mitral valve leaflet 0.024908668216539354
Joint contracture of the hand 0.024908668216539354
Premature rupture of membranes 0.024908668216539354
Mental deterioration 0.024908668216539354
Irregularly spaced teeth 0.024908668216539354
Babinski sign 0.024908668216539354
Chronic kidney disease 0.024908668216539354
Elevated hepatic transaminase 0.024908668216539354
Abnormality of the cervical spine 0.024908668216539354
Enterocolitis 0.024908668216539354
Fetal fifth finger clinodactyly 0.024908668216539354
Aplasia/Hypoplasia of the eyebrow 0.024908668216539354
Nephrotic syndrome 0.024908668216539354
Celiac disease 0.024908668216539354
Thin nail 0.024908668216539354
Prolonged QT interval 0.024908668216539354
Decreased circulating antibody level 0.024908668216539354
Graves disease 0.024908668216539354
Posterior embryotoxon 0.024908668216539354
Diffuse white matter abnormalities 0.024908668216539354
Postauricular skin tag 0.024908668216539354
Shuffling gait 0.024908668216539354
Hyposmia 0.024908668216539354
Deformed rib cage 0.024908668216539354
Histiocytosis 0.024908668216539354
Absent/hypoplastic coccyx 0.024908668216539354
Maternal teratogenic exposure 0.024908668216539354
Aplasia/Hypoplasia of the ear 0.024908668216539354
Calcaneovalgus deformity 0.024908668216539354
Abnormality of head or neck 0.024908668216539354
Oral motor hypotonia 0.024908668216539354
Diplopia 0.024908668216539354
No social interaction 0.024908668216539354
Pineal cyst 0.024908668216539354
Muscle spasm 0.024908668216539354
Stereotypical body rocking 0.024908668216539354
Macrocytic anemia 0.024908668216539354
Fatigue 0.024908668216539354
Calf muscle pseudohypertrophy 0.024908668216539354
Abnormal cortical gyration 0.024908668216539354
Drowsiness 0.024908668216539354
Hernia of the abdominal wall 0.024908668216539354
Hip subluxation 0.024908668216539354
Sound sensitivity 0.024908668216539354
Enchondroma 0.024908668216539354
Poor hand-eye coordination 0.024908668216539354
Cardiac rhabdomyoma 0.024908668216539354
Cortical tubers 0.024908668216539354
Hand monodactyly 0.024908668216539354
Exodeviation 0.024908668216539354
Decreased head circumference 0.024908668216539354
Genu recurvatum 0.024908668216539354
Alternating exotropia 0.024908668216539354
Dermal translucency 0.024908668216539354
Broad ribs 0.024908668216539354
Conjunctival telangiectasia 0.024908668216539354
Thin calvarium 0.024908668216539354
Male pseudohermaphroditism 0.024908668216539354
Abnormality of dentin 0.024908668216539354
Coxa vara 0.024908668216539354
Lateral clavicle hook 0.024908668216539354
Abnormal acetabulum morphology 0.024908668216539354
Aplasia/Hypoplasia of the diaphragm 0.024908668216539354
Mandibular aplasia 0.024908668216539354
Flared iliac wings 0.024908668216539354
Weakness of facial musculature 0.024908668216539354
Abnormal pelvis bone morphology 0.024908668216539354
Single naris 0.024908668216539354
Skeletal muscle hypertrophy 0.024908668216539354
Abnormal macular morphology 0.024908668216539354
Increased laxity of ankles 0.024908668216539354
Forearm reduction defects 0.024908668216539354
Cerebral arteriovenous malformation 0.024908668216539354
Abnormal temper tantrums 0.024908668216539354
Dysplastic tricuspid valve 0.024908668216539354
Sinus venosus atrial septal defect 0.016605778811026237
EEG with spike-wave complexes (<2.5 Hz) 0.016605778811026237
Involuntary movements 0.016605778811026237
Intestinal duplication 0.016605778811026237
Occipital cortical atrophy 0.016605778811026237
Parietal cortical atrophy 0.016605778811026237
Cloacal exstrophy 0.016605778811026237
Asymmetry of the maxilla 0.016605778811026237
Abnormality of the seventh cranial nerve 0.016605778811026237
Tongue fasciculations 0.016605778811026237
Primum atrial septal defect 0.016605778811026237
Hypoplasia of the vagina 0.016605778811026237
Increased bone mineral density 0.016605778811026237
Female pseudohermaphroditism 0.016605778811026237
Abnormal nasolacrimal system morphology 0.016605778811026237
Blepharochalasis 0.016605778811026237
Humeroradial synostosis 0.016605778811026237
Abnormality of the lens 0.016605778811026237
Right aortic arch with mirror image branching 0.016605778811026237
Distichiasis 0.016605778811026237
Lower limb peromelia 0.016605778811026237
Bifid nail 0.016605778811026237
Uterine neoplasm 0.016605778811026237
Frontal cortical atrophy 0.016605778811026237
Nasal regurgitation 0.016605778811026237
Distal lower limb amyotrophy 0.016605778811026237
Meningitis 0.016605778811026237
Abnormality of the basal ganglia 0.016605778811026237
Osteomalacia 0.016605778811026237
Seborrheic dermatitis 0.016605778811026237
Lower lip pit 0.016605778811026237
Abnormality of the temporomandibular joint 0.016605778811026237
Focal emotional seizure with crying 0.016605778811026237
Multiple central nervous system lipomas 0.016605778811026237
Crohn's disease 0.016605778811026237
Autoimmunity 0.016605778811026237
EEG with generalized polyspikes 0.016605778811026237
Lingual thyroid 0.016605778811026237
Abnormal pattern of respiration 0.016605778811026237
Abnormal posturing 0.016605778811026237
Tracheobronchomalacia 0.016605778811026237
Lymphadenopathy 0.016605778811026237
Papilledema 0.016605778811026237
Hypophosphatemia 0.016605778811026237
Foot asymmetry 0.016605778811026237
Fibrous dysplasia of the bones 0.016605778811026237
Talipes valgus 0.016605778811026237
Urticaria 0.016605778811026237
Palate fistula 0.016605778811026237
Abnormal plantar dermatoglyphics 0.016605778811026237
Cavum septum pellucidum 0.016605778811026237
Abnormality of the thyroid gland 0.016605778811026237
Hypoplasia of the zygomatic bone 0.016605778811026237
Loss of consciousness 0.016605778811026237
Papule 0.016605778811026237
Exercise intolerance 0.016605778811026237
Nuclear cataract 0.016605778811026237
Abnormal 5th finger morphology 0.016605778811026237
Abnormal oral cavity morphology 0.016605778811026237
Molar tooth sign on MRI 0.016605778811026237
Hypoplasia of penis 0.016605778811026237
Non-restrictive ventricular septal defect 0.016605778811026237
Hypertrophy of the upper limb 0.016605778811026237
Short 2nd toe 0.016605778811026237
Noncommunicating hydrocephalus 0.016605778811026237
Aplasia/Hypoplasia of the phalanges of the hand 0.016605778811026237
Choreoathetosis 0.016605778811026237
Focal white matter lesions 0.016605778811026237
Renal duplication 0.016605778811026237
Microtia, second degree 0.016605778811026237
Abnormal sclera morphology 0.016605778811026237
Midline central nervous system lipomas 0.016605778811026237
Increased muscle fatiguability 0.016605778811026237
Focal dystonia 0.016605778811026237
Laryngeal cleft 0.016605778811026237
Aplasia/hypoplasia of the extremities 0.016605778811026237
Rhabdomyolysis 0.016605778811026237
Branchial fistula 0.016605778811026237
Prune belly 0.016605778811026237
Peripheral demyelination 0.016605778811026237
Spherocytosis 0.016605778811026237
Increased carrying angle 0.016605778811026237
Large beaked nose 0.016605778811026237
Stroke 0.016605778811026237
Shoulder dimple 0.016605778811026237
Joint contracture of the 5th finger 0.016605778811026237
Aortic root aneurysm 0.016605778811026237
Abnormal fingertip morphology 0.016605778811026237
Aplasia/Hypoplasia of the radius 0.016605778811026237
Diffuse cerebral atrophy 0.016605778811026237
Unilateral radial aplasia 0.016605778811026237
Abnormality of the middle ear 0.016605778811026237
Camptodactyly of 2nd-5th fingers 0.016605778811026237
Pituitary dwarfism 0.016605778811026237
Broad distal phalanx of the thumb 0.016605778811026237
Shortening of all distal phalanges of the toes 0.016605778811026237
Shortening of all middle phalanges of the toes 0.016605778811026237
Dentinogenesis imperfecta 0.016605778811026237
Generalized clonic seizure 0.016605778811026237
Chronic lung disease 0.016605778811026237
Respiratory failure requiring assisted ventilation 0.016605778811026237
Photosensitive tonic-clonic seizure 0.016605778811026237
Schizencephaly 0.016605778811026237
Alacrima 0.016605778811026237
Atypical absence seizure 0.016605778811026237
Tarsal synostosis 0.016605778811026237
Generalized dystonia 0.016605778811026237
Corneal scarring 0.016605778811026237
Premature birth following premature rupture of fetal membranes 0.016605778811026237
Fused teeth 0.016605778811026237
Functional abnormality of the bladder 0.016605778811026237
Thenar muscle atrophy 0.016605778811026237
Mild myopia 0.016605778811026237
Broad fingertip 0.016605778811026237
Elbow hypertrichosis 0.016605778811026237
Focal clonic seizure 0.016605778811026237
Congenital contracture 0.016605778811026237
Muscle abnormality related to mitochondrial dysfunction 0.016605778811026237
Deficit in phonologic short-term memory 0.016605778811026237
Neutropenia in presence of anti-neutropil antibodies 0.016605778811026237
EEG with generalized slow activity 0.016605778811026237
Prominent supraorbital arches in adult 0.016605778811026237
Ventouse delivery 0.016605778811026237
Congenital foot contractures 0.016605778811026237
Recurrent infections in infancy and early childhood 0.016605778811026237
Lumbar spinal canal stenosis 0.016605778811026237
Contracture of the distal interphalangeal joint of the fingers 0.016605778811026237
Aplasia/Hypoplasia of toe 0.016605778811026237
Hypermobility of interphalangeal joints 0.016605778811026237
2-4 toe cutaneous syndactyly 0.016605778811026237
Absence of stomach bubble on fetal sonography 0.016605778811026237
Echogenic fetal bowel 0.016605778811026237
Opsoclonus 0.016605778811026237
Pointed helix 0.016605778811026237
Abnormality of incisor morphology 0.016605778811026237
Intermittent thrombocytopenia 0.016605778811026237
Lower limb amyotrophy 0.016605778811026237
Upper limb amyotrophy 0.016605778811026237
Unilateral cleft palate 0.016605778811026237
Polyarticular arthritis 0.016605778811026237
Abnormal oral frenulum morphology 0.016605778811026237
Hypoplastic fifth toenail 0.016605778811026237
Anhidrotic ectodermal dysplasia 0.016605778811026237
Predominantly lower limb lymphedema 0.016605778811026237
Abnormal nervous system electrophysiology 0.016605778811026237
Flexion contracture of the 5th toe 0.016605778811026237
Aplasia/Hypoplasia of the spleen 0.016605778811026237
Frontal hirsutism 0.016605778811026237
Esophagitis 0.016605778811026237
Aplasia/Hypoplasia involving bones of the thorax 0.016605778811026237
Thickened nuchal skin fold 0.016605778811026237
Deviation of toes 0.016605778811026237
Functional motor deficit 0.016605778811026237
Short uvula 0.016605778811026237
Transverse facial cleft 0.016605778811026237
External genital hypoplasia 0.016605778811026237
Facial hypertrichosis 0.016605778811026237
Thoracic hypertrichosis 0.016605778811026237
Coronal hypospadias 0.016605778811026237
Rectal fistula 0.016605778811026237
Bridged palmar crease 0.016605778811026237
Aplasia/Hypoplasia of the ovary 0.016605778811026237
Aplasia/hypoplasia of the uterus 0.016605778811026237
Gaze-evoked nystagmus 0.016605778811026237
Abnormal lumbar spine morphology 0.016605778811026237
Frontotemporal cerebral atrophy 0.016605778811026237
Hemimegalencephaly 0.016605778811026237
Recurrent bronchitis 0.016605778811026237
Stroke-like episode 0.016605778811026237
Abnormality of the scalp hair 0.016605778811026237
Left superior vena cava draining to coronary sinus 0.016605778811026237
Short tibia 0.016605778811026237
Abnormal rectum morphology 0.016605778811026237
Bilateral radial aplasia 0.016605778811026237
IgA deposition in the glomerulus 0.016605778811026237
Abnormal shape of the palpebral fissure 0.016605778811026237
4-5 finger syndactyly 0.016605778811026237
Concave nasal ridge 0.016605778811026237
Abnormality of the immune system 0.016605778811026237
Hashimoto thyroiditis 0.016605778811026237
Oval face 0.016605778811026237
Hypodontia 0.016605778811026237
Osteopenia 0.016605778811026237
Orofacial dyskinesia 0.016605778811026237
Abnormal palmar dermatoglyphics 0.016605778811026237
Ureteral obstruction 0.016605778811026237
Subglottic stenosis 0.016605778811026237
Exostoses 0.016605778811026237
Hypoplasia of the frontal lobes 0.016605778811026237
Lower thoracic kyphosis 0.016605778811026237
Aplasia/Hypoplasia of the nipples 0.016605778811026237
Pinealoma 0.016605778811026237
Vertebral arch anomaly 0.016605778811026237
Low levels of vitamin D 0.016605778811026237
Hemolytic anemia 0.016605778811026237
Ulcerative colitis 0.016605778811026237
Cranial nerve VI palsy 0.016605778811026237
Micromelia 0.016605778811026237
Cessation of head growth 0.016605778811026237
Bilateral fetal pyelectasis 0.016605778811026237
Abnormal scalp morphology 0.016605778811026237
Agoraphobia 0.016605778811026237
Exercise-induced muscle fatigue 0.016605778811026237
Cervical kyphosis 0.016605778811026237
Generalized abnormality of skin 0.016605778811026237
Hydroureter 0.016605778811026237
Hyperpigmented nevi 0.016605778811026237
Mesiodens 0.016605778811026237
Laryngeal stenosis 0.016605778811026237
Dysphonia 0.016605778811026237
Patellar subluxation 0.016605778811026237
Inlet ventricular septal defect 0.016605778811026237
Wolff-Parkinson-White syndrome 0.016605778811026237
Hypoplasia of the pons 0.016605778811026237
Ankle clonus 0.016605778811026237
Upper limb spasticity 0.016605778811026237
Mandibulofacial dysostosis 0.016605778811026237
Abnormality of the hairline 0.016605778811026237
Abnormal eyelash morphology 0.016605778811026237
Bladder exstrophy 0.016605778811026237
Renal hypoplasia/aplasia 0.016605778811026237
Atypical scarring of skin 0.016605778811026237
Chronic sensorineural polyneuropathy 0.016605778811026237
Hypercoagulability 0.016605778811026237
Skin ulcer 0.016605778811026237
Depigmentation/hyperpigmentation of skin 0.016605778811026237
Unilateral brachydactyly 0.016605778811026237
Prominent nasal septum 0.016605778811026237
Thin eyebrow 0.016605778811026237
Neurogenic bladder 0.016605778811026237
CNS hypomyelination 0.016605778811026237
Short distal phalanx of the thumb 0.016605778811026237
Inflammation of the large intestine 0.016605778811026237
Shortening of all phalanges of fingers 0.016605778811026237
Forward facing earlobe 0.016605778811026237
Testicular atrophy 0.016605778811026237
Juvenile cataract 0.016605778811026237
Abdominal mass 0.016605778811026237
Abnormal hair quantity 0.016605778811026237
Iron deficiency anemia 0.016605778811026237
Overgrowth of external genitalia 0.016605778811026237
Short fetal femur length 0.016605778811026237
Abnormality of the larynx 0.016605778811026237
Aortic valve atresia 0.016605778811026237
Ureteral stenosis 0.016605778811026237
11 pairs of ribs 0.016605778811026237
Flexion contracture of the 2nd finger 0.016605778811026237
Dysharmonic delayed bone age 0.016605778811026237
Female hypogonadism 0.016605778811026237
Hypoplasia of the optic tract 0.016605778811026237
Enlarged fetal cisterna magna 0.016605778811026237
Abnormal localization of kidney 0.016605778811026237
Eczematoid dermatitis 0.016605778811026237
Narrow nasal septum 0.016605778811026237
Lumbar kyphosis in infancy 0.016605778811026237
Sudden episodic apnea 0.016605778811026237
Synovitis 0.016605778811026237
Large face 0.016605778811026237
Unilateral renal atrophy 0.016605778811026237
Axenfeld anomaly 0.016605778811026237
Equinovarus deformity 0.016605778811026237
Adenomatous colonic polyposis 0.016605778811026237
Petechiae 0.016605778811026237
Aplasia of the bladder 0.016605778811026237
Abnormality of ductus venosus blood flow 0.016605778811026237
Laryngotracheal stenosis 0.016605778811026237
Incisor macrodontia 0.016605778811026237
Type E brachydactyly 0.016605778811026237
Absent thumb 0.016605778811026237
Hepatic calcification 0.016605778811026237
Rigidity 0.016605778811026237
Pulmonary valve atresia 0.016605778811026237
Short metatarsal 0.016605778811026237
Abnormal head movements 0.016605778811026237
Areflexia 0.016605778811026237
Abnormality of thyroid physiology 0.016605778811026237
Hyponatremia 0.016605778811026237
Abnormality of the scrotum 0.016605778811026237
Abnormality of the uvula 0.016605778811026237
Abnormal pulmonary valve morphology 0.016605778811026237
Decreased muscle mass 0.016605778811026237
Progressive spastic quadriplegia 0.016605778811026237
Gastrointestinal obstruction 0.016605778811026237
Transient ischemic attack 0.016605778811026237
Metaphyseal chondrodysplasia 0.016605778811026237
Tachycardia 0.016605778811026237
Neonatal breathing dysregulation 0.016605778811026237
Gastroparesis 0.016605778811026237
Aminoaciduria 0.016605778811026237
Nephropathy 0.016605778811026237
Abnormality of the ankles 0.016605778811026237
Fatigable weakness 0.016605778811026237
Remnants of the hyaloid vascular system 0.016605778811026237
Intestinal lymphangiectasia 0.016605778811026237
Right ventricular hypertrophy 0.016605778811026237
Aplasia/Hypoplasia of the testes 0.016605778811026237
Adrenal insufficiency 0.016605778811026237
Asymmetric crying face 0.016605778811026237
Motor deterioration 0.016605778811026237
Subluxation of the small joints of the hand 0.016605778811026237
Colon cancer 0.016605778811026237
Abnormality of pain sensation 0.016605778811026237
Abnormal hippocampus morphology 0.016605778811026237
Juvenile gastrointestinal polyposis 0.016605778811026237
Abnormality of dental structure 0.016605778811026237
Vascular skin abnormality 0.016605778811026237
Neck pterygia 0.016605778811026237
Lower limb muscle weakness 0.016605778811026237
Abnormality of the cerebral ventricles 0.016605778811026237
Morphological abnormality of the semicircular canal 0.016605778811026237
Generalized bone demineralization 0.016605778811026237
Jejunal atresia 0.016605778811026237
Shallow orbits 0.016605778811026237
Numerous pigmented freckles 0.016605778811026237
Multiple enchondromatosis 0.016605778811026237
Hemihypertrophy of lower limb 0.016605778811026237
Menorrhagia 0.016605778811026237
Lumbar scoliosis 0.016605778811026237
Gonadal tissue inappropriate for external genitalia or chromosomal sex 0.016605778811026237
Diaphragmatic paralysis 0.016605778811026237
Laryngeal stridor 0.016605778811026237
Multiple joint contractures 0.016605778811026237
Olivopontocerebellar hypoplasia 0.016605778811026237
Cerebral dysmyelination 0.016605778811026237
Abnormality of the periventricular white matter 0.016605778811026237
Inflammatory abnormality of the eye 0.016605778811026237
Bulbous tips of toes 0.016605778811026237
Hypoplastic tricuspid valve 0.016605778811026237
Congenital bilateral hip dislocation 0.016605778811026237
Facial capillary hemangioma 0.016605778811026237
Cholesteatoma 0.016605778811026237
Lipoma 0.016605778811026237
Abnormal globus pallidus morphology 0.016605778811026237
Congenital horizontal nystagmus 0.016605778811026237
Hypermobility of distal interphalangeal joints 0.016605778811026237
Rudimentary postaxial polydactyly of hands 0.016605778811026237
Cataplexy 0.016605778811026237
Tetralogy of Fallot with pulmonary stenosis 0.016605778811026237
Asymmetry of the breasts 0.016605778811026237
Microcolon 0.016605778811026237
Abnormal toenail morphology 0.016605778811026237
Congenital craniofacial dysostosis 0.016605778811026237
Gingivitis 0.016605778811026237
Premature skin wrinkling 0.016605778811026237
Bronchiolitis 0.016605778811026237
Agenesis of cerebellar vermis 0.016605778811026237
Abnormal blistering of the skin 0.016605778811026237
Thoracolumbar kyphoscoliosis 0.016605778811026237
Grammar-specific speech disorder 0.016605778811026237
Aplasia/Hypoplasia affecting the anterior segment of the eye 0.016605778811026237
Abnormality of the 3rd toe 0.016605778811026237
Vertebral clefting 0.016605778811026237
Areflexia of lower limbs 0.016605778811026237
High-frequency hearing impairment 0.016605778811026237
Congenital kyphoscoliosis 0.016605778811026237
Cleft ala nasi 0.016605778811026237
Long ear 0.016605778811026237
Renal angiomyolipoma 0.016605778811026237
Abnormal pulmonary Interstitial morphology 0.016605778811026237
Diastomatomyelia 0.016605778811026237
Aplasia/Hypoplasia of the distal phalanges of the hand 0.016605778811026237
Aplasia/Hypoplasia of the middle phalanges of the hand 0.016605778811026237
Glabellar hemangioma 0.016605778811026237
Aplasia/Hypoplasia of the phalanges of the 3rd finger 0.016605778811026237
Short third metatarsal 0.016605778811026237
Allergic rhinitis 0.016605778811026237
Panhypopituitarism 0.016605778811026237
Lymphoma 0.016605778811026237
Perioral eczema 0.016605778811026237
Pneumonia 0.016605778811026237
Abnormality of connective tissue 0.016605778811026237
Unilateral absence of pectoralis major muscle 0.016605778811026237
Abnormality of the anterior fontanelle 0.016605778811026237
Nyctalopia 0.016605778811026237
Increased head circumference 0.016605778811026237
Anorectal anomaly 0.016605778811026237
Melanoma 0.016605778811026237
Nasogastric tube feeding 0.016605778811026237
Overjet 0.016605778811026237
Scleroderma 0.016605778811026237
Asymmetric short stature 0.016605778811026237
Upper limb postural tremor 0.016605778811026237
Abnormality of body weight 0.016605778811026237
Parkinsonism 0.016605778811026237
Atrial septal dilatation 0.016605778811026237
Deviation of finger 0.016605778811026237
Hepatocellular adenoma 0.016605778811026237
Decreased circulating IgG level 0.016605778811026237
Distal urethral duplication 0.016605778811026237
Subcortical cerebral atrophy 0.016605778811026237
Athetoid cerebral palsy 0.016605778811026237
Unilateral renal hypoplasia 0.016605778811026237
Underfolded superior helices 0.016605778811026237
Central hypoventilation 0.016605778811026237
Woolly hair 0.016605778811026237
Joint contracture of the 3rd finger 0.016605778811026237
Joint contracture of the 4th finger 0.016605778811026237
Pelvic bone asymmetry 0.016605778811026237
Congenital Horner syndrome 0.016605778811026237
Panhypogammaglobulinemia 0.016605778811026237
Bitemporal hollowing 0.016605778811026237
Hyperechogenic kidneys 0.016605778811026237
Unilateral conductive hearing impairment 0.016605778811026237
Tracheal stenosis 0.016605778811026237
Hypoplastic aortic arch 0.016605778811026237
Reduced visual acuity 0.016605778811026237
Prominent palmar flexion creases 0.016605778811026237
Growth hormone excess 0.016605778811026237
Burkitt lymphoma 0.016605778811026237
Hooded eyelid 0.016605778811026237
Spastic gait 0.016605778811026237
Vocal cord paresis 0.016605778811026237
Hooded upper eyelid 0.016605778811026237
Capillary malformation 0.016605778811026237
Diarrhea 0.016605778811026237
Premature adrenarche 0.016605778811026237
Submucous cleft of soft and hard palate 0.016605778811026237
Ureter duplex 0.016605778811026237
Primary congenital glaucoma 0.016605778811026237
Stuttering 0.016605778811026237
Clinodactyly of the thumb 0.016605778811026237
Absent hallux 0.016605778811026237
Atypical nevus 0.016605778811026237
Enlarged tonsils 0.016605778811026237
Intraventricular hemorrhage 0.016605778811026237
Appendicular hypotonia 0.016605778811026237
Abnormal bronchus morphology 0.016605778811026237
ST segment elevation 0.016605778811026237
Ventricular fibrillation 0.016605778811026237
Ventricular tachycardia 0.016605778811026237
Left ventricular noncompaction cardiomyopathy 0.016605778811026237
Rectovestibular fistula 0.016605778811026237
Purpura 0.016605778811026237
Hypoplasia of the olfactory bulb 0.016605778811026237
Poor visual behavior for age 0.016605778811026237
Decreased activity of mitochondrial complex IV 0.016605778811026237
Unilateral facial palsy 0.016605778811026237
Myalgia 0.016605778811026237
Pilonidal abscess 0.016605778811026237
Ophthalmoplegia 0.016605778811026237
Pulmonary valve defects 0.016605778811026237
Abnormality of body height 0.016605778811026237
Short ear 0.016605778811026237
Cochlear malformation 0.016605778811026237
Short upper lip 0.016605778811026237
Congenital shortened small intestine 0.016605778811026237
Suicidal ideation 0.016605778811026237
Dysdiadochokinesis 0.016605778811026237
Hyporeflexia of upper limbs 0.016605778811026237
Foot monodactyly 0.016605778811026237
Mixed astigmatism 0.016605778811026237
Oculomotor nerve palsy 0.016605778811026237
Episodic paroxysmal anxiety 0.016605778811026237
Euryblepharon 0.016605778811026237
Increased body mass index 0.016605778811026237
EEG with temporal focal spikes 0.016605778811026237
Sclerosing cholangitis 0.016605778811026237
Paroxysmal bursts of laughter 0.016605778811026237
Hypoxemia 0.016605778811026237
Periventricular cysts 0.016605778811026237
Recurrent corneal erosions 0.016605778811026237
Colonic atresia 0.016605778811026237
Large sella turcica 0.016605778811026237
Abnormal vitreous humor morphology 0.016605778811026237
Flaring of rib cage 0.016605778811026237
Unossified vertebral bodies 0.016605778811026237
Acromelia of the upper limbs 0.016605778811026237
Macular degeneration 0.016605778811026237
Ulnar bowing 0.016605778811026237
Oligospermia 0.016605778811026237
Abnormality of the auditory canal 0.016605778811026237
Abnormality of the knee 0.016605778811026237
Absent eyebrow 0.016605778811026237
Brain neoplasm 0.016605778811026237
J-shaped sella turcica 0.016605778811026237
Chylothorax 0.016605778811026237
Bladder diverticulum 0.016605778811026237
Telangiectasia of the skin 0.016605778811026237
Retinal degeneration 0.016605778811026237
Limitation of movement at ankles 0.016605778811026237
Ablepharon 0.016605778811026237
Neoplasm of the thyroid gland 0.016605778811026237
Hematuria 0.016605778811026237
Premature graying of hair 0.016605778811026237
Alopecia totalis 0.016605778811026237
Abnormality of the pubic bone 0.016605778811026237
B lymphocytopenia 0.016605778811026237
Large placenta 0.016605778811026237
Abnormality of neutrophils 0.016605778811026237
Spinal cord tumor 0.016605778811026237
Xanthomatosis 0.016605778811026237
Stenosis of the medullary cavity of the long bones 0.016605778811026237
Corneal asymmetry 0.016605778811026237
Proboscis 0.016605778811026237
Proximal placement of hallux 0.016605778811026237
Mask-like facies 0.016605778811026237
Abnormal jejunum morphology 0.016605778811026237
Triangular-shaped open mouth 0.016605778811026237
Motor polyneuropathy 0.016605778811026237
Polyuria 0.016605778811026237
Facial diplegia 0.016605778811026237
Macule 0.016605778811026237
Setting-sun eye phenomenon 0.016605778811026237
Abnormal heart valve morphology 0.016605778811026237
Late chronotype 0.016605778811026237
Myocarditis 0.016605778811026237
Hernia 0.016605778811026237
Abnormal cerebral morphology 0.016605778811026237
Stellate iris 0.016605778811026237
Digital flexor tenosynovitis 0.016605778811026237
Mesomelia 0.016605778811026237
Tonic seizure 0.016605778811026237
Adenoma sebaceum 0.016605778811026237
Subependymal nodules 0.016605778811026237
Bilateral superior vena cava with bridging vein 0.008302889405513119
Trichorrhexis nodosa 0.008302889405513119
Bowing of the long bones 0.008302889405513119
Abnormal greater sciatic notch morphology 0.008302889405513119
Abnormal salivary gland morphology 0.008302889405513119
Aplasia/Hypoplasia of the tragus 0.008302889405513119
Periorbital hyperpigmentation 0.008302889405513119
Thrombocytosis 0.008302889405513119
Amniotic constriction rings of legs 0.008302889405513119
Aplasia/hypoplasia involving bones of the lower limbs 0.008302889405513119
Aplasia/hypoplasia involving bones of the upper limbs 0.008302889405513119
Trident hand 0.008302889405513119
Spinal myoclonus 0.008302889405513119
Facial telangiectasia 0.008302889405513119
Secondary hyperparathyroidism 0.008302889405513119
Abnormality of long bone morphology 0.008302889405513119
Cerebral germinoma 0.008302889405513119
Abnormal patella morphology 0.008302889405513119
Ependymoma 0.008302889405513119
Chronic sinusitis 0.008302889405513119
Lacrimal duct stenosis 0.008302889405513119
EEG with spike-wave complexes (2.5-3.5 Hz) 0.008302889405513119
Ectopia of the spleen 0.008302889405513119
Mirror image hand polydactyly 0.008302889405513119
Apneic episodes in infancy 0.008302889405513119
Exercise-induced muscle stiffness 0.008302889405513119
Peripheral dysmyelination 0.008302889405513119
Rectal prolapse 0.008302889405513119
Vestibular nystagmus 0.008302889405513119
Enlarged cerebellum 0.008302889405513119
Pericarditis 0.008302889405513119
Beaking of vertebral bodies 0.008302889405513119
Irregular vertebral endplates 0.008302889405513119
Episodic hypersomnia 0.008302889405513119
Deviation of the 4th toe 0.008302889405513119
Pathologic fracture 0.008302889405513119
Proximal tubulopathy 0.008302889405513119
Calf muscle hypoplasia 0.008302889405513119
Abnormality of the humerus 0.008302889405513119
Abnormality of the crus of the helix 0.008302889405513119
Abnormal connection of the cardiac segments 0.008302889405513119
Progressive spasticity 0.008302889405513119
Abnormality of immune system physiology 0.008302889405513119
Visual field defect 0.008302889405513119
Abnormal chorioretinal morphology 0.008302889405513119
Falls 0.008302889405513119
Multiple palmar creases 0.008302889405513119
Abnormality of the epiphyses of the distal phalanx of finger 0.008302889405513119
Neonatal alloimmune thrombocytopenia 0.008302889405513119
Mottled pigmentation of the trunk and proximal extremities 0.008302889405513119
Proximal muscle weakness in upper limbs 0.008302889405513119
Compensated hypothyroidism 0.008302889405513119
Increased variability in muscle fiber diameter 0.008302889405513119
Type 2 muscle fiber predominance 0.008302889405513119
Hypoplasia of the ventral pons 0.008302889405513119
Sirenomelia 0.008302889405513119
Thoracic hypoplasia 0.008302889405513119
EEG with multifocal slow activity 0.008302889405513119
Deviation of the hand or of fingers of the hand 0.008302889405513119
Increased connective tissue 0.008302889405513119
Hypoplastic iris stroma 0.008302889405513119
Deep longitudinal plantar crease 0.008302889405513119
Abnormality of metabolism/homeostasis 0.008302889405513119
Abnormality of the cerebellar vermis 0.008302889405513119
Lumbar hemivertebrae 0.008302889405513119
Ecchymosis 0.008302889405513119
Antihelical shelf 0.008302889405513119
Hypoplasia of the primary teeth 0.008302889405513119
Focal motor seizure 0.008302889405513119
Nevus flammeus of the forehead 0.008302889405513119
Hemihypotrophy of lower limb 0.008302889405513119
Synostosis involving the 1st metacarpal 0.008302889405513119
Verrucae 0.008302889405513119
High-frequency sensorineural hearing impairment 0.008302889405513119
Bifid epiglottis 0.008302889405513119
Lacrimation abnormality 0.008302889405513119
Aplasia of the middle ear ossicles 0.008302889405513119
Lower extremity joint dislocation 0.008302889405513119
Autoimmune thrombocytopenia 0.008302889405513119
Focal emotional seizure with laughing 0.008302889405513119
Membranous subvalvular aortic stenosis 0.008302889405513119
Akinesia 0.008302889405513119
Bifid distal phalanx of the thumb 0.008302889405513119
Fourth cranial nerve palsy 0.008302889405513119
Atrophy/Degeneration affecting the brainstem 0.008302889405513119
Absent or minimally ossified vertebral bodies 0.008302889405513119
Flat capital femoral epiphysis 0.008302889405513119
Asymmetric growth 0.008302889405513119
Curved phalanges of the 5th finger 0.008302889405513119
Abnormal pericardium morphology 0.008302889405513119
Cherry red spot of the macula 0.008302889405513119
Cone-shaped metacarpal epiphyses 0.008302889405513119
Reduced antithrombin III activity 0.008302889405513119
Shortening of all metacarpals 0.008302889405513119
Shortening of all middle phalanges of the fingers 0.008302889405513119
Abnormality of the dentate nucleus 0.008302889405513119
Short middle phalanx of the 4th finger 0.008302889405513119
Short middle phalanx of the 5th finger 0.008302889405513119
Abnormality of fibula morphology 0.008302889405513119
Bowed humerus 0.008302889405513119
Abnormality of subcutaneous fat tissue 0.008302889405513119
Mesoaxial foot polydactyly 0.008302889405513119
Peroneal muscle weakness 0.008302889405513119
Choroid plexus calcification 0.008302889405513119
Increased intracranial pressure 0.008302889405513119
Abnormal hard palate morphology 0.008302889405513119
Sparse anterior scalp hair 0.008302889405513119
Focal T2 hyperintense basal ganglia lesion 0.008302889405513119
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines 0.008302889405513119
Glioma 0.008302889405513119
Chilblains 0.008302889405513119
Abnormality of primary teeth 0.008302889405513119
Aplasia/Hypoplasia of fingers 0.008302889405513119
Recurrent viral infections 0.008302889405513119
EEG with focal slow activity 0.008302889405513119
EEG with polyspike wave complexes 0.008302889405513119
Cone-shaped epiphysis 0.008302889405513119
Generalized opacification of the cornea 0.008302889405513119
Esophageal stricture 0.008302889405513119
Freckles in sun-exposed areas 0.008302889405513119
Short phalanx of the thumb 0.008302889405513119
Abnormality of the pons 0.008302889405513119
Soft, doughy skin 0.008302889405513119
Gaze-evoked horizontal nystagmus 0.008302889405513119
Hyperorality 0.008302889405513119
Diffuse hepatic steatosis 0.008302889405513119
Primary hypothyroidism 0.008302889405513119
Uninodular goiter 0.008302889405513119
Laterally extended eyebrow 0.008302889405513119
Congenital finger flexion contractures 0.008302889405513119
Contracture of the distal interphalangeal joint of the 2nd toe 0.008302889405513119
Contracture of the distal interphalangeal joint of the 3rd toe 0.008302889405513119
Contracture of the distal interphalangeal joint of the 4th toe 0.008302889405513119
Contractures of the distal interphalangeal joint of the 5th toe 0.008302889405513119
Decreased palmar creases 0.008302889405513119
Ulnar deviated club hands 0.008302889405513119
Double tooth 0.008302889405513119
Hepatic cysts 0.008302889405513119
Deviation of the thumb 0.008302889405513119
Short mandibular rami 0.008302889405513119
Generalized hyperpigmentation 0.008302889405513119
Shoulder dystocia 0.008302889405513119
Progressive neurologic deterioration 0.008302889405513119
Corneal dystrophy 0.008302889405513119
Tall lumbar vertebral bodies 0.008302889405513119
Nasal mucosa telangiectasia 0.008302889405513119
EEG with abnormally slow frequencies 0.008302889405513119
Severely reduced visual acuity 0.008302889405513119
Abnormality of facial musculature 0.008302889405513119
Joint stiffness 0.008302889405513119
Moderate generalized osteoporosis 0.008302889405513119
Epistaxis 0.008302889405513119
Malignant hyperthermia 0.008302889405513119
Abnormality of the brainstem white matter 0.008302889405513119
Impaired feeding ability 0.008302889405513119
Peripheral axonal atrophy 0.008302889405513119
Mild proteinuria 0.008302889405513119
Shortening of all phalanges of the toes 0.008302889405513119
Unilateral renal dysplasia 0.008302889405513119
Abnormality of adrenal morphology 0.008302889405513119
Transient nephrotic syndrome 0.008302889405513119
Abnormality of urine calcium concentration 0.008302889405513119
Increased urinary potassium 0.008302889405513119
Pituitary hypothyroidism 0.008302889405513119
Increased subcutaneous truncal adipose tissue 0.008302889405513119
Focal tonic seizure 0.008302889405513119
Dilated fourth ventricle 0.008302889405513119
Dysgenesis of the cerebellar vermis 0.008302889405513119
Polydactyly affecting the 4th toe 0.008302889405513119
Absent tibia 0.008302889405513119
Fibular aplasia 0.008302889405513119
Flexion contracture of the 4th toe 0.008302889405513119
Abnormality of the nasal cavity 0.008302889405513119
Apical muscular ventricular septal defect 0.008302889405513119
Persistent patent ductus venosus 0.008302889405513119
Aplasia/Hypoplasia involving the vertebral column 0.008302889405513119
Irregularity of vertebral bodies 0.008302889405513119
Jerky head movements 0.008302889405513119
Congenital abnormal hair pattern 0.008302889405513119
Accessory spleen 0.008302889405513119
Pulmonary situs ambiguus with bilateral morphologic right lungs 0.008302889405513119
Progressive inability to walk 0.008302889405513119
Clinodactyly of the 2nd toe 0.008302889405513119
Enlarged vestibular aqueduct 0.008302889405513119
Limited elbow extension and supination 0.008302889405513119
Abnormality of joint mobility 0.008302889405513119
Hypoplastic 5th lumbar vertebrae 0.008302889405513119
Bilateral triphalangeal thumbs 0.008302889405513119
Discrete 2 to 5-mm hyper- and hypopigmented macules 0.008302889405513119
Absent nares 0.008302889405513119
Stomach cancer 0.008302889405513119
Aplasia/Hypoplasia of the 1st metacarpal 0.008302889405513119
Cryptophthalmos 0.008302889405513119
Nevus sebaceous 0.008302889405513119
Underdeveloped tragus 0.008302889405513119
Elbow ankylosis 0.008302889405513119
Spontaneous, recurrent epistaxis 0.008302889405513119
Absent antihelix 0.008302889405513119
Aplasia of the proximal phalanx of the 5th finger 0.008302889405513119
Short phalanx of the 4th toe 0.008302889405513119
Short phalanx of the 5th toe 0.008302889405513119
Internal carotid artery hypoplasia 0.008302889405513119
Multiple suture craniosynostosis 0.008302889405513119
Aplasia cutis congenita over posterior parietal area 0.008302889405513119
Abnormal left ventricular outflow tract morphology 0.008302889405513119
Abnormal length of corpus callosum 0.008302889405513119
Azoospermia 0.008302889405513119
Spondyloepimetaphyseal dysplasia 0.008302889405513119
Arteriovenous malformation 0.008302889405513119
Ileus 0.008302889405513119
Widely patent fontanelles and sutures 0.008302889405513119
Hemisacrum 0.008302889405513119
Midnasal stenosis 0.008302889405513119
Agenesis of incisor 0.008302889405513119
Abnormality of ocular smooth pursuit 0.008302889405513119
Congenital megaureter 0.008302889405513119
Prominent nasolabial fold 0.008302889405513119
Proximal fibular overgrowth 0.008302889405513119
Thoracic kyphoscoliosis 0.008302889405513119
Methylmalonic acidemia 0.008302889405513119
Leukonychia 0.008302889405513119
Duplication of thumb phalanx 0.008302889405513119
Decreased lacrimation 0.008302889405513119
Aplasia/hypoplasia involving the skeleton 0.008302889405513119
Humoral immunodeficiency 0.008302889405513119
Spinal canal stenosis 0.008302889405513119
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 0.008302889405513119
Widely-spaced maxillary central incisors 0.008302889405513119
Hypoplasia of the vestibular nerve 0.008302889405513119
Prostate cancer 0.008302889405513119
Patchy alopecia 0.008302889405513119
Myokymia 0.008302889405513119
Parathyroid hyperplasia 0.008302889405513119
Localized neuroblastoma 0.008302889405513119
Progressive external ophthalmoplegia 0.008302889405513119
Absent foot 0.008302889405513119
Aplasia/hypoplasia involving bones of the hand 0.008302889405513119
Reactive hypoglycemia 0.008302889405513119
Hypoplasia of the cochlea 0.008302889405513119
Incomplete partition of the cochlea 0.008302889405513119
Branchial sinus 0.008302889405513119
Short dental roots 0.008302889405513119
Macular hypopigmented whorls, streaks, and patches 0.008302889405513119
Lymphopenia 0.008302889405513119
Recurrent fever 0.008302889405513119
Elevated alkaline phosphatase of hepatic origin 0.008302889405513119
Pigment gallstones 0.008302889405513119
Progressive alopecia 0.008302889405513119
Tapered phalanx of finger 0.008302889405513119
Type B brachydactyly 0.008302889405513119
Crossed fused renal ectopia 0.008302889405513119
Mottled pigmentation 0.008302889405513119
Ulnar deviation of the wrist 0.008302889405513119
Abnormal epiglottis morphology 0.008302889405513119
Calvarial skull defect 0.008302889405513119
Nausea and vomiting 0.008302889405513119
Pancreatitis 0.008302889405513119
Selective tooth agenesis 0.008302889405513119
Abnormality of the hypothenar eminence 0.008302889405513119
Hemiplegia/hemiparesis 0.008302889405513119
Aplastic/hypoplastic lacrimal glands 0.008302889405513119
Abnormality of the mastoid 0.008302889405513119
Enlarged epiphyses of the toes 0.008302889405513119
Enlarged thumb epiphysis 0.008302889405513119
Abnormal renal medulla morphology 0.008302889405513119
Low-frequency sensorineural hearing impairment 0.008302889405513119
Bronchogenic cyst 0.008302889405513119
Urinary hesitancy 0.008302889405513119
Prominent digit pad 0.008302889405513119
High maternal serum chorionic gonadotropin 0.008302889405513119
Low maternal serum alpha-fetoprotein 0.008302889405513119
Recurrent bacterial infections 0.008302889405513119
Advanced ossification of the hand bones 0.008302889405513119
Profuse pigmented skin lesions 0.008302889405513119
Low-set nipples 0.008302889405513119
Ketosis 0.008302889405513119
Large cafe-au-lait macules with irregular margins 0.008302889405513119
Abnormal branching pattern of the aortic arch 0.008302889405513119
Hypoplastic pulmonary veins 0.008302889405513119
Incomplete cleft of the upper lip 0.008302889405513119
Stahl ear 0.008302889405513119
Abnormality of dental eruption 0.008302889405513119
Nausea 0.008302889405513119
Urethral obstruction 0.008302889405513119
Abnormality of humoral immunity 0.008302889405513119
Atrophy/Degeneration affecting the cerebrum 0.008302889405513119
Malformed lacrimal duct 0.008302889405513119
Thickened cortex of long bones 0.008302889405513119
Abnormal cry 0.008302889405513119
Basilar invagination 0.008302889405513119
Cortical cataract 0.008302889405513119
Decreased glomerular filtration rate 0.008302889405513119
Hair-pulling 0.008302889405513119
Ectopic ovary 0.008302889405513119
1-minute APGAR score of 2 0.008302889405513119
5-minute APGAR score of 6 0.008302889405513119
Hyperbilirubinemia 0.008302889405513119
Meconium stained amniotic fluid 0.008302889405513119
Flared nostrils 0.008302889405513119
Hypocalcemic seizures 0.008302889405513119
Nuchal cord 0.008302889405513119
Abnormal tendon morphology 0.008302889405513119
Exencephaly 0.008302889405513119
Abnormality of the musculature of the limbs 0.008302889405513119
Neck muscle weakness 0.008302889405513119
Short distal phalanx of hallux 0.008302889405513119
Short distal phalanx of the 2nd finger 0.008302889405513119
Short distal phalanx of toe 0.008302889405513119
Short first metatarsal 0.008302889405513119
Hypernatremia 0.008302889405513119
Semilobar holoprosencephaly 0.008302889405513119
Abnormality of the gastrointestinal tract 0.008302889405513119
Abnormal renal collecting system morphology 0.008302889405513119
No permanent dentition 0.008302889405513119
Slow-growing nails 0.008302889405513119
Upper limb muscle weakness 0.008302889405513119
Localized skin lesion 0.008302889405513119
Abnormality of the orbital region 0.008302889405513119
Retinal dysplasia 0.008302889405513119
Telangiectases producing 'marbled' skin 0.008302889405513119
Hypoplasia of the ulna 0.008302889405513119
Postaxial oligodactyly 0.008302889405513119
Generalized muscular appearance from birth 0.008302889405513119
Hyperpigmented genitalia 0.008302889405513119
Delayed ossification of the hand bones 0.008302889405513119
Periodontitis 0.008302889405513119
Coronal craniosynostosis 0.008302889405513119
Distal upper limb muscle weakness 0.008302889405513119
Proximal muscle weakness in lower limbs 0.008302889405513119
Restrictive ventricular septal defect 0.008302889405513119
Midfrontal capillary hemangioma 0.008302889405513119
Medullary nephrocalcinosis 0.008302889405513119
Mongolian blue spot 0.008302889405513119
Pallor 0.008302889405513119
High insertion of columella 0.008302889405513119
Pulmonary artery atresia 0.008302889405513119
Nonimmune hydrops fetalis 0.008302889405513119
Generalized weakness of limb muscles 0.008302889405513119
Inspiratory stridor 0.008302889405513119
Labial hypertrophy 0.008302889405513119
Contractures of the large joints 0.008302889405513119
Partial atrioventricular canal defect 0.008302889405513119
Endocardial fibroelastosis 0.008302889405513119
Visual loss 0.008302889405513119
Limitation of joint mobility 0.008302889405513119
Abnormal hypothalamus morphology 0.008302889405513119
Nasal obstruction 0.008302889405513119
Prominent nipples 0.008302889405513119
Abnormality of the pulmonary veins 0.008302889405513119
Broad alveolar ridges 0.008302889405513119
Congenital hemolytic anemia 0.008302889405513119
Pursed lips 0.008302889405513119
Infantile sensorineural hearing impairment 0.008302889405513119
Colitis 0.008302889405513119
Long upper eyelashes 0.008302889405513119
Bowing of the legs 0.008302889405513119
Drug-sensitive hemolytic anemia 0.008302889405513119
Hypoplastic sacrum 0.008302889405513119
Horizontal jerk nystagmus 0.008302889405513119
Narrow internal auditory canal 0.008302889405513119
Bifid nose 0.008302889405513119
Hemangioblastoma 0.008302889405513119
Pustule 0.008302889405513119
Recurrent bacterial skin infections 0.008302889405513119
High-output congestive heart failure 0.008302889405513119
Abnormal tricuspid valve morphology 0.008302889405513119
Concentric hypertrophic cardiomyopathy 0.008302889405513119
Abnormality of the intrahepatic bile duct 0.008302889405513119
Aplasia/Hypoplasia of the pancreas 0.008302889405513119
Sydney crease 0.008302889405513119
3-5 finger syndactyly 0.008302889405513119
Upper limb metaphyseal widening 0.008302889405513119
Absent gallbladder 0.008302889405513119
Sacral hypertrichosis 0.008302889405513119
Juvenile rheumatoid arthritis 0.008302889405513119
Cerebral white matter agenesis 0.008302889405513119
Central heterochromia 0.008302889405513119
Aplasia/Hypoplasia of the optic tract 0.008302889405513119
Contracture of the proximal interphalangeal joint of the 4th finger 0.008302889405513119
Curved fingers 0.008302889405513119
Multiple gastric polyps 0.008302889405513119
Abnormal finger flexion creases 0.008302889405513119
Congenital portosystemic venous shunt 0.008302889405513119
Lymphangioma 0.008302889405513119
Abnormal carotid artery morphology 0.008302889405513119
Atrophy/Degeneration affecting the central nervous system 0.008302889405513119
Ganglioneuroblastoma 0.008302889405513119
Abnormal glucose homeostasis 0.008302889405513119
Abnormalities of placenta or umbilical cord 0.008302889405513119
Enlarged epiphyses of the distal phalanges of the hand 0.008302889405513119
Acetabular dysplasia 0.008302889405513119
Anomalous splenoportal venous system 0.008302889405513119
Dystrophic fingernails 0.008302889405513119
Portal hypertension 0.008302889405513119
Palmoplantar keratoderma 0.008302889405513119
Abnormality of the fontanelles or cranial sutures 0.008302889405513119
Cleft in skull base 0.008302889405513119
Abnormality of the head 0.008302889405513119
Transient global amnesia 0.008302889405513119
Abnormality of the phalanges of the 5th toe 0.008302889405513119
Calcification of the auricular cartilage 0.008302889405513119
Acromesomelia 0.008302889405513119
Aplasia/Hypoplasia of the lungs 0.008302889405513119
Double inlet left ventricle 0.008302889405513119
Univentricular heart with absent left sided atrioventricular connection 0.008302889405513119
Abnormality of the upper arm 0.008302889405513119
Persistent open anterior fontanelle 0.008302889405513119
Bell-shaped thorax 0.008302889405513119
Axial muscle weakness 0.008302889405513119
Abnormality of the plantar skin of foot 0.008302889405513119
Foot dorsiflexor weakness 0.008302889405513119
Impaired platelet aggregation 0.008302889405513119
Thin anteverted nares 0.008302889405513119
Brainstem dysplasia 0.008302889405513119
Abnormal 2nd finger morphology 0.008302889405513119
Progressive choreoathetosis 0.008302889405513119
Diffuse demyelination of the cerebral white matter 0.008302889405513119
Hepatic fibrosis 0.008302889405513119
Abnormal middle phalanx morphology of the hand 0.008302889405513119
Bulging epiphyses 0.008302889405513119
Dyskinesia 0.008302889405513119
Cheilitis 0.008302889405513119
Diffuse nuclear cataract 0.008302889405513119
Absence of subcutaneous fat 0.008302889405513119
Pulmonary artery dilatation 0.008302889405513119
Penoscrotal hypospadias 0.008302889405513119
Recurrent bronchopulmonary infections 0.008302889405513119
Congenital thrombocytopenia 0.008302889405513119
Urinary bladder inflammation 0.008302889405513119
Hamartoma 0.008302889405513119
Ketoacidosis 0.008302889405513119
Abnormal facial expression 0.008302889405513119
Keloids 0.008302889405513119
Paralysis 0.008302889405513119
Muscle stiffness 0.008302889405513119
Scarring 0.008302889405513119
Abnormality of salivation 0.008302889405513119
Insulin resistance 0.008302889405513119
Presenile cataracts 0.008302889405513119
Urogenital sinus anomaly 0.008302889405513119
Mitochondrial myopathy 0.008302889405513119
Abnormality of dermal melanosomes 0.008302889405513119
Total intestinal aganglionosis 0.008302889405513119
Glenoid fossa hypoplasia 0.008302889405513119
Abnormal circulating cholesterol concentration 0.008302889405513119
Parietal bossing 0.008302889405513119
Cerebellar glioma 0.008302889405513119
Broad skull 0.008302889405513119
Abnormality of the biliary system 0.008302889405513119
Abnormal vena cava morphology 0.008302889405513119
Abnormality of the 4th metacarpal 0.008302889405513119
Cutaneous syndactyly between fingers 2 and 5 0.008302889405513119
Proximal radio-ulnar synostosis 0.008302889405513119
Cerebral white matter hypoplasia 0.008302889405513119
Chin with horizontal crease 0.008302889405513119
Abnormality of the thymus 0.008302889405513119
Congenital miosis 0.008302889405513119
Recurrent aspiration pneumonia 0.008302889405513119
Abnormality of femur morphology 0.008302889405513119
Tibial torsion 0.008302889405513119
Vein of Galen aneurysmal malformation 0.008302889405513119
Cerebellar malformation 0.008302889405513119
Patchy demyelination of subcortical white matter 0.008302889405513119
Premature atrial contractions 0.008302889405513119
Abnormality of umbilical vein blood flow 0.008302889405513119
Angioedema 0.008302889405513119
Retinal hemorrhage 0.008302889405513119
Round ear 0.008302889405513119
Conical tooth 0.008302889405513119
Severe hydrocephalus 0.008302889405513119
Abnormality of lower limb joint 0.008302889405513119
Abnormality of the calcaneus 0.008302889405513119
Abnormality of coagulation 0.008302889405513119
Increased facial adipose tissue 0.008302889405513119
Telangiectasia 0.008302889405513119
Progressive gait ataxia 0.008302889405513119
Premature arteriosclerosis 0.008302889405513119
Retinal vascular malformation 0.008302889405513119
Curved 4th toe phalanx 0.008302889405513119
Curved 5th toe phalanx 0.008302889405513119
Diabetes insipidus 0.008302889405513119
Pulmonary fibrosis 0.008302889405513119
Partial duplication of thumb phalanx 0.008302889405513119
S-shaped palpebral fissures 0.008302889405513119
Conical mandibular incisor 0.008302889405513119
Genital tract atresia 0.008302889405513119
True hermaphroditism 0.008302889405513119
Impotence 0.008302889405513119
Non-obstructive azoospermia 0.008302889405513119
Pendular nystagmus 0.008302889405513119
Low-frequency hearing loss 0.008302889405513119
Abnormality of the pharynx 0.008302889405513119
Limb pain 0.008302889405513119
Short proximal phalanx of thumb 0.008302889405513119
EMG: axonal abnormality 0.008302889405513119
Impaired smooth pursuit 0.008302889405513119
Diffuse cerebral calcification 0.008302889405513119
Dilated third ventricle 0.008302889405513119
Urethrocele 0.008302889405513119
Dry hair 0.008302889405513119
3-4 finger cutaneous syndactyly 0.008302889405513119
Primary adrenal insufficiency 0.008302889405513119
Long clavicles 0.008302889405513119
Undulate clavicles 0.008302889405513119
Acute rhabdomyolysis 0.008302889405513119
Lumbar interpedicular narrowing 0.008302889405513119
Posterior scalloping of vertebral bodies 0.008302889405513119
Ectopia cordis 0.008302889405513119
Type A brachydactyly 0.008302889405513119
Bilateral basal ganglia lesions 0.008302889405513119
Distal symphalangism 0.008302889405513119
Symphalangism affecting the phalanges of the toes 0.008302889405513119
Polyneuropathy 0.008302889405513119
1-2 finger syndactyly 0.008302889405513119
Posterior pituitary agenesis 0.008302889405513119
Aplasia/Hypoplasia of the 5th finger 0.008302889405513119
Nonopposable triphalangeal thumb 0.008302889405513119
Congenital ichthyosiform erythroderma 0.008302889405513119
Atlantoaxial dislocation 0.008302889405513119
C1-C2 vertebral abnormality 0.008302889405513119
Bilateral ductus arteriosus 0.008302889405513119
Central hypothyroidism 0.008302889405513119
Hypopigmentation of the fundus 0.008302889405513119
Tongue thrusting 0.008302889405513119
Abnormality of the menstrual cycle 0.008302889405513119
Curved middle phalanx of the 5th finger 0.008302889405513119
Elevated circulating parathyroid hormone level 0.008302889405513119
Bilateral renal agenesis 0.008302889405513119
Flexion contracture of the hallux 0.008302889405513119
Radioulnar dislocation 0.008302889405513119
Ovoid vertebral bodies 0.008302889405513119
Abnormality of the urethra 0.008302889405513119
Pilonidal sinus 0.008302889405513119
Septic arthritis 0.008302889405513119
Morphological abnormality of the inner ear 0.008302889405513119
Abnormal rapid eye movement sleep 0.008302889405513119
Bilateral cleft palate 0.008302889405513119
Recurrent tonsillitis 0.008302889405513119
Intermittent diarrhea 0.008302889405513119
Childhood onset short-limb short stature 0.008302889405513119
Aplasia/Hypoplasia involving bones of the feet 0.008302889405513119
Dysuria 0.008302889405513119
High-pitched cry 0.008302889405513119
Left unicoronal synostosis 0.008302889405513119
Recurrent patellar dislocation 0.008302889405513119
Right unilambdoid synostosis 0.008302889405513119
Talipes calcaneovalgus 0.008302889405513119
Rheumatoid arthritis 0.008302889405513119
Supraventricular arrhythmia 0.008302889405513119
Generalized aminoaciduria 0.008302889405513119
Paroxysmal atrial fibrillation 0.008302889405513119
Abnormality of the phalanges of the hallux 0.008302889405513119
Drusen 0.008302889405513119
Axial malrotation of the kidney 0.008302889405513119
Posterior capsular cataract 0.008302889405513119
Premature loss of permanent teeth 0.008302889405513119
Contracture of the distal interphalangeal joint of the 5th finger 0.008302889405513119
Recurrent cutaneous abscess formation 0.008302889405513119
Slender nose 0.008302889405513119
Abnormality of the 2nd metacarpal 0.008302889405513119
Freckling 0.008302889405513119
Abnormality of the scaphoid 0.008302889405513119
Hypoplastic left atrium 0.008302889405513119
Poikiloderma 0.008302889405513119
Flexion contracture of toe 0.008302889405513119
Absent proximal finger flexion creases 0.008302889405513119
Limb dystonia 0.008302889405513119
Supernumerary maxillary incisor 0.008302889405513119
Madelung-like forearm deformities 0.008302889405513119
Abnormal renal pelvis morphology 0.008302889405513119
Prominent protruding coccyx 0.008302889405513119
Chin with H-shaped crease 0.008302889405513119
Bronchiolitis obliterans 0.008302889405513119
Ventricular septal hypertrophy 0.008302889405513119
Eclampsia 0.008302889405513119
Abnormality of ocular abduction 0.008302889405513119
Premature delivery because of cervical insufficiency or membrane fragility 0.008302889405513119
Maternal diabetes 0.008302889405513119
Generalized keratosis follicularis 0.008302889405513119
Swelling of proximal interphalangeal joints 0.008302889405513119
Short humerus 0.008302889405513119
Type A1 brachydactyly 0.008302889405513119
Papillary thyroid carcinoma 0.008302889405513119
Renal cell carcinoma 0.008302889405513119
Acne inversa 0.008302889405513119
Duplication of the phalanges of the 2nd toe 0.008302889405513119
Aplasia/Hypoplasia of the middle phalanges of the toes 0.008302889405513119
Unerupted tooth 0.008302889405513119
Curved hallux phalanx 0.008302889405513119
Premature loss of teeth 0.008302889405513119
Hemangiomatosis 0.008302889405513119
Moderate conductive hearing impairment 0.008302889405513119
Abnormal posterior cranial fossa morphology 0.008302889405513119
Aplasia of the distal phalanges of the hand 0.008302889405513119
Aplasia/Hypoplasia of the distal phalanx of the 2nd finger 0.008302889405513119
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 0.008302889405513119
Intussusception 0.008302889405513119
Bilateral tonic-clonic seizure on awakening 0.008302889405513119
Absent forearm 0.008302889405513119
Vitamin B12 deficiency 0.008302889405513119
Abnormal EKG 0.008302889405513119
Aplasia/Hypoplasia of the 4th metacarpal 0.008302889405513119
Aplasia/Hypoplasia of the 5th metacarpal 0.008302889405513119
Aplasia/Hypoplasia of the phalanges of the 4th toe 0.008302889405513119
Prominent frontal sinuses 0.008302889405513119
Decreased CSF homovanillic acid 0.008302889405513119
Increased serum pyruvate 0.008302889405513119
Abnormality of the thenar eminence 0.008302889405513119
Syncope 0.008302889405513119
Generalized microdontia 0.008302889405513119
Abnormality of the middle phalanx of the 3rd finger 0.008302889405513119
Abnormality of the skull base 0.008302889405513119
Decreased patellar reflex 0.008302889405513119
Lack of spontaneous play 0.008302889405513119
Thickened ribs 0.008302889405513119
Marked delay in eruption of permanent teeth 0.008302889405513119
Abnormal pancreas morphology 0.008302889405513119
Brachyturricephaly 0.008302889405513119
Generalized amyotrophy 0.008302889405513119
Typical absence seizure 0.008302889405513119
Cardiac arrest 0.008302889405513119
Contracture of the proximal interphalangeal joint of the 2nd finger 0.008302889405513119
Increased mean corpuscular volume 0.008302889405513119
Corticospinal tract atrophy 0.008302889405513119
Hypothalamic hamartoma 0.008302889405513119
Retroperitoneal chemodectomas 0.008302889405513119
Diabetic ketoacidosis 0.008302889405513119
Bulimia 0.008302889405513119
Early cutaneous photosensitivity 0.008302889405513119
Abnormal stool composition 0.008302889405513119
Odontogenic keratocysts of the jaw 0.008302889405513119
Puberty and gonadal disorders 0.008302889405513119
Aortic tortuosity 0.008302889405513119
Arrhinencephaly 0.008302889405513119
Abnormality of canine 0.008302889405513119
Total anomalous pulmonary venous return 0.008302889405513119
Temperature instability 0.008302889405513119
Radial deviation of the thumb 0.008302889405513119
Facial shape deformation 0.008302889405513119
Clinodactyly of the 2nd finger 0.008302889405513119
Congenitally corrected transposition of the great arteries with ventricular septal defect 0.008302889405513119
Genital hernia 0.008302889405513119
Allergy 0.008302889405513119
Aplasia/Hypoplasia of the 3rd toe 0.008302889405513119
Aplasia/Hypoplasia of the 4th toe 0.008302889405513119
Aplasia/Hypoplasia of the phalanges of the 2nd finger 0.008302889405513119
Aplasia/Hypoplasia of the phalanges of the thumb 0.008302889405513119
Cutaneous syndactyly 0.008302889405513119
Bilateral renal hypoplasia 0.008302889405513119
Recurrent upper and lower respiratory tract infections 0.008302889405513119
Patchy hypo- and hyperpigmentation 0.008302889405513119
Aplasia/Hypoplasia of the cerebrum 0.008302889405513119
Abnormal number of incisors 0.008302889405513119
Occipital meningocele 0.008302889405513119
Peripheral axonal neuropathy 0.008302889405513119
Onychogryposis of toenails 0.008302889405513119
Osteopetrosis 0.008302889405513119
Polydipsia 0.008302889405513119
Tapered distal phalanges of finger 0.008302889405513119
Normocytic anemia 0.008302889405513119
Cerebral white matter atrophy 0.008302889405513119
Cardiac conduction abnormality 0.008302889405513119
Common atrium 0.008302889405513119
Left atrial isomerism 0.008302889405513119
Hypotropia 0.008302889405513119
Long upper lip 0.008302889405513119
Narrow philtrum 0.008302889405513119
Right ventricular dilatation 0.008302889405513119
Abnormal oral glucose tolerance 0.008302889405513119
Chronic hepatitis 0.008302889405513119
Continuous spike and waves during slow sleep 0.008302889405513119
Abnormal substantia nigra morphology 0.008302889405513119
Increased CSF lactate 0.008302889405513119
Sparse body hair 0.008302889405513119
Hyponasal speech 0.008302889405513119
Basal ganglia calcification 0.008302889405513119
Knee clonus 0.008302889405513119
Cone/cone-rod dystrophy 0.008302889405513119
Abnormal atrioventricular valve morphology 0.008302889405513119
Congenital muscular dystrophy 0.008302889405513119
Hypoventilation 0.008302889405513119
Neonatal short-limb short stature 0.008302889405513119
Abnormal 4th finger morphology 0.008302889405513119
Auricular pit 0.008302889405513119
Congenital malformation of the left heart 0.008302889405513119
Craniofacial disproportion 0.008302889405513119
Skin-picking 0.008302889405513119
Morbus Scheuermann 0.008302889405513119
Piebaldism 0.008302889405513119
Hypoplastic right heart 0.008302889405513119
Severe T-cell immunodeficiency 0.008302889405513119
Decreased liver function 0.008302889405513119
Flattening of the talar dome 0.008302889405513119
Corneal degeneration 0.008302889405513119
Shallow acetabular fossae 0.008302889405513119
Anarthria 0.008302889405513119
Proximal limb muscle stiffness 0.008302889405513119
Spotty hypopigmentation 0.008302889405513119
Paranoia 0.008302889405513119
Abnormality of hair growth 0.008302889405513119
Midline facial cleft 0.008302889405513119
Laryngeal cyst 0.008302889405513119
Fetal ascites 0.008302889405513119
Abnormality of odontoid tissue 0.008302889405513119
Hypoplastic olfactory lobes 0.008302889405513119
Hoarse cry 0.008302889405513119
Abnormal trachea morphology 0.008302889405513119
Proximal muscle weakness 0.008302889405513119
Absent vas deferens 0.008302889405513119
Abnormality of the musculature of the upper limbs 0.008302889405513119
Butterfly vertebral arch 0.008302889405513119
Abnormal size of pituitary gland 0.008302889405513119
Narcolepsy 0.008302889405513119
Palmoplantar hyperhidrosis 0.008302889405513119
Prominent interphalangeal joints 0.008302889405513119
Progressive flexion contractures 0.008302889405513119
Episodic hyperhidrosis 0.008302889405513119
Progressive cerebellar ataxia 0.008302889405513119
Abnormal spaced incisors 0.008302889405513119
Photosensitive myoclonic seizure 0.008302889405513119
Demyelinating motor neuropathy 0.008302889405513119
Demyelinating sensory neuropathy 0.008302889405513119
Progressive peripheral neuropathy 0.008302889405513119
Scrotal hypospadias 0.008302889405513119
Intrahepatic biliary atresia 0.008302889405513119
Congenital malformation of the great arteries 0.008302889405513119
Coma 0.008302889405513119
Diaphragmatic weakness 0.008302889405513119
White mater abnormalities in the posterior periventricular region 0.008302889405513119
Septo-optic dysplasia 0.008302889405513119
4-layered lissencephaly 0.008302889405513119
Intestinal atresia 0.008302889405513119
Lacrimal duct atresia 0.008302889405513119
Abnormal fundus morphology 0.008302889405513119
Bilateral renal dysplasia 0.008302889405513119
Dysgenesis of the hippocampus 0.008302889405513119
Abnormal circulating creatine kinase concentration 0.008302889405513119
Entrapment neuropathy 0.008302889405513119
Glucose intolerance 0.008302889405513119
Megalencephaly 0.008302889405513119
Head-banging 0.008302889405513119
Abnormality of the curvature of the vertebral column 0.008302889405513119
Rhinitis 0.008302889405513119
Abnormality of the amniotic fluid 0.008302889405513119
Decreased facial expression 0.008302889405513119
Delayed self-feeding during toddler years 0.008302889405513119
Osteoma 0.008302889405513119
Cutaneous myxoma 0.008302889405513119
Pituitary adenoma 0.008302889405513119
Bifid proximal phalanx of the thumb 0.008302889405513119
Astrocytoma 0.008302889405513119
Bronchiectasis 0.008302889405513119
Euthyroid multinodular goiter 0.008302889405513119
Multiple rib fractures 0.008302889405513119
Echogenic intracardiac focus 0.008302889405513119
Small fontanelle 0.008302889405513119
Increased dermatoglyphic whorls 0.008302889405513119
Flexion contracture of thumb 0.008302889405513119
Progressive spastic paraplegia 0.008302889405513119
Malnutrition 0.008302889405513119
Polar cataract 0.008302889405513119
Pretragal ectopia 0.008302889405513119
Triangular nasal tip 0.008302889405513119
Complete atrioventricular canal defect 0.008302889405513119
Abnormal nasopharyngeal adenoid morphology 0.008302889405513119
Olivopontocerebellar atrophy 0.008302889405513119
Bilateral multifocal epileptiform discharges 0.008302889405513119
Abdominal pain 0.008302889405513119
Ganglioside accumulation 0.008302889405513119
Mucopolysacchariduria 0.008302889405513119
Abnormally ossified vertebrae 0.008302889405513119
Hyperextensible thumb 0.008302889405513119
Abducens palsy 0.008302889405513119
Scaphocephaly 0.008302889405513119
Constrictive median neuropathy 0.008302889405513119
Polycystic ovaries 0.008302889405513119
Anal fissure 0.008302889405513119
Broad distal phalanx of the hallux 0.008302889405513119
Symphalangism of the thumb 0.008302889405513119
Abnormality of the shape of the midface 0.008302889405513119
Aplasia of the nasal bone 0.008302889405513119
Calcific stippling 0.008302889405513119
Calcific stippling of infantile cartilaginous skeleton 0.008302889405513119
Epiphyseal stippling of the humerus 0.008302889405513119
Epiphyseal stippling of the metacarpals 0.008302889405513119
Neonatal epiphyseal stippling 0.008302889405513119
Tarsal stippling 0.008302889405513119
Prominence of the zygomatic bone 0.008302889405513119
Hypochromic microcytic anemia 0.008302889405513119
Abnormal urinary odor 0.008302889405513119
Absent first metatarsal 0.008302889405513119
Increased size of nasopharyngeal adenoids 0.008302889405513119
Macular hyperpigmentation 0.008302889405513119
Wide nasal ridge 0.008302889405513119
Abnormality of the fifth metatarsal bone 0.008302889405513119
Decreased HDL cholesterol concentration 0.008302889405513119
Hypertriglyceridemia 0.008302889405513119
Microtia, first degree 0.008302889405513119
Tachypnea 0.008302889405513119
Cervical lymphadenopathy 0.008302889405513119
Lower limb pain 0.008302889405513119
Hodgkin lymphoma 0.008302889405513119
Abnormality of malar bones 0.008302889405513119
Functional abnormality of the middle ear 0.008302889405513119
Arterial stenosis 0.008302889405513119
Unilateral external ear deformity 0.008302889405513119
Macular hypoplasia 0.008302889405513119
Divergence nystagmus 0.008302889405513119
Morgagni diaphragmatic hernia 0.008302889405513119
Lobar holoprosencephaly 0.008302889405513119
Left hemiplegia 0.008302889405513119
Abnormality of lateral rectus extra-ocular muscle 0.008302889405513119
Bifid ureter 0.008302889405513119
Synostosis involving the elbow 0.008302889405513119
Hypoplasia of the thymus 0.008302889405513119
Abnormality of the shoulder girdle musculature 0.008302889405513119
Upturned corners of mouth 0.008302889405513119
Metabolic alkalosis 0.008302889405513119
Heart block 0.008302889405513119
Holosystolic murmur 0.008302889405513119
Microblepharia 0.008302889405513119
Microcytic anemia 0.008302889405513119
Abnormality of the distal phalanx of the thumb 0.008302889405513119
Abnormal coronary artery morphology 0.008302889405513119
Abnormal pulmonary artery morphology 0.008302889405513119
Arteriovenous fistulas of celiac and mesenteric vessels 0.008302889405513119
Bronchial atresia 0.008302889405513119
Congenital stationary cone dysfunction 0.008302889405513119
Abnormality of the incisor 0.008302889405513119
Bicarbonate-wasting renal tubular acidosis 0.008302889405513119
Sparse eyebrow 0.008302889405513119
Epispadias 0.008302889405513119
Left ventricular diastolic dysfunction 0.008302889405513119
Amaurosis fugax 0.008302889405513119
Blurred vision 0.008302889405513119
Low-to-normal blood pressure 0.008302889405513119
Mild hearing impairment 0.008302889405513119
Macular edema 0.008302889405513119
Abnormal 3rd finger morphology 0.008302889405513119
Hepatoblastoma 0.008302889405513119
Normochromic anemia 0.008302889405513119
Large posterior fontanelle 0.008302889405513119
Facial paralysis 0.008302889405513119
Incomplete partition of the cochlea type II 0.008302889405513119
Abnormal femoral torsion 0.008302889405513119
Cough 0.008302889405513119
Abnormality of the spinocerebellar tracts 0.008302889405513119
Gastrointestinal inflammation 0.008302889405513119
Congenital malformation of the right heart 0.008302889405513119
Abnormal vertebral pedicle morphology 0.008302889405513119
Intrahepatic cholestasis with episodic jaundice 0.008302889405513119
Cerebral ischemia 0.008302889405513119
Neck flexor weakness 0.008302889405513119
Intrauterine fetal demise of one twin after midgestation 0.008302889405513119
Macular hyperpigmented dermopathy 0.008302889405513119
Cleft earlobe 0.008302889405513119
Palmoplantar scaling skin 0.008302889405513119
Generalized hypopigmentation of hair 0.008302889405513119
Limb tremor 0.008302889405513119
Scanning speech 0.008302889405513119
Restless legs 0.008302889405513119
Widened cerebral subarachnoid space 0.008302889405513119
Cerebral hypoplasia 0.008302889405513119
Intraventricular arachnoid cyst 0.008302889405513119
Mild hypermetropia 0.008302889405513119
Multiple lentigines 0.008302889405513119
Carpal bone hypoplasia 0.008302889405513119
Hyperuricemia 0.008302889405513119
Tetralogy of Fallot with absent pulmonary valve 0.008302889405513119
Nonprogressive cerebellar ataxia 0.008302889405513119
Distal amyotrophy 0.008302889405513119
Sacral lipoma 0.008302889405513119
Fetal megacystis 0.008302889405513119
Central diaphragmatic hernia 0.008302889405513119
Aortopulmonary collateral arteries 0.008302889405513119
EEG with focal spikes 0.008302889405513119
Abnormal lacrimal gland morphology 0.008302889405513119
EMG abnormality 0.008302889405513119
Paraparesis 0.008302889405513119
Epiphyseal stippling 0.008302889405513119
Punctate vertebral calcifications 0.008302889405513119
Spontaneous abortion 0.008302889405513119
Hydrometrocolpos 0.008302889405513119
Partial vaginal septum 0.008302889405513119
Neonatal intestinal obstruction 0.008302889405513119
Subaortic ventricular septal bulge 0.008302889405513119
Status epilepticus without prominent motor symptoms 0.008302889405513119
Sacral segmentation defect 0.008302889405513119
Aorto-right ventricular tunnel 0.008302889405513119
Hyperplasia of the Leydig cells 0.008302889405513119
Testicular fibrosis 0.008302889405513119
Adult onset sensorineural hearing impairment 0.008302889405513119
Abnormal eye morphology 0.008302889405513119
Glaucomatous visual field defect 0.008302889405513119
Proximal femoral epiphysiolysis 0.008302889405513119
Action tremor 0.008302889405513119
Narrow palm 0.008302889405513119
Abnormality of skeletal morphology 0.008302889405513119
Cyanotic episode 0.008302889405513119
Limb dysmetria 0.008302889405513119
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis 0.008302889405513119
Mitral atresia 0.008302889405513119
Unilateral vocal cord paresis 0.008302889405513119
Joint swelling 0.008302889405513119
Renal atrophy 0.008302889405513119
Parotitis 0.008302889405513119
Raynaud phenomenon 0.008302889405513119
Right hemiplegia 0.008302889405513119
Class II obesity 0.008302889405513119
Gout 0.008302889405513119
Abnormality of lateral ventricle 0.008302889405513119
Abnormality of the third ventricle 0.008302889405513119
Class III obesity 0.008302889405513119
Microdontia of primary teeth 0.008302889405513119
Renal malrotation 0.008302889405513119
Keratoconjunctivitis sicca 0.008302889405513119
Transient hyperphenylalaninemia 0.008302889405513119
Biparietal narrowing 0.008302889405513119
Disproportionate short stature 0.008302889405513119
Aplasia of the 4th finger 0.008302889405513119
Fragile teeth 0.008302889405513119
Neuropathic arthropathy 0.008302889405513119
Delayed ability to stand 0.008302889405513119
Intermediate atrioventricular canal defect 0.008302889405513119
Abnormal ear morphology 0.008302889405513119
Mandibular condyle hypoplasia 0.008302889405513119
Abnormal superior vena cava morphology 0.008302889405513119
Dermatochalasis 0.008302889405513119
Hypoplastic labia majora 0.008302889405513119
Bicoronal synostosis 0.008302889405513119
Focal cortical dysplasia 0.008302889405513119
EEG with central focal spikes 0.008302889405513119
Mixed hypo- and hyperpigmentation of the skin 0.008302889405513119
Isomerism 0.008302889405513119
Pericardial effusion 0.008302889405513119
Acute leukemia 0.008302889405513119
Elevated urinary N,N-dimethylglycine level 0.008302889405513119
Atrial flutter 0.008302889405513119
Cow milk allergy 0.008302889405513119
Abnormal number of permanent teeth 0.008302889405513119
Prenatal movement abnormality 0.008302889405513119
Progressive ventriculomegaly 0.008302889405513119
Venous thrombosis 0.008302889405513119
Pulmonary situs inversus 0.008302889405513119
Cirrhosis 0.008302889405513119
Vestibular areflexia 0.008302889405513119
Aortic dissection 0.008302889405513119
Rhabdomyosarcoma 0.008302889405513119
Giant cell hepatitis 0.008302889405513119
1-5 finger complete cutaneous syndactyly 0.008302889405513119
Juxtaductal coarctation of the aorta 0.008302889405513119
Moderate myopia 0.008302889405513119
Abdominal obesity 0.008302889405513119
Stiff ankle 0.008302889405513119
Right bundle branch block 0.008302889405513119
Diffuse leukoencephalopathy 0.008302889405513119
Amelia involving the upper limbs 0.008302889405513119
Lymphangioma of the orbit 0.008302889405513119
Self-neglect 0.008302889405513119
Abnormal vitamin B12 level 0.008302889405513119
Pigmentary retinopathy 0.008302889405513119
Abnormal thoracic spine morphology 0.008302889405513119
Elfin facies 0.008302889405513119
Abnormal basal ganglia MRI signal intensity 0.008302889405513119
Anterior encephalocele 0.008302889405513119
Increased skull ossification 0.008302889405513119
Acrocyanosis 0.008302889405513119
Abnormal myelination 0.008302889405513119
Adenocarcinoma of the colon 0.008302889405513119
Thyroid carcinoma 0.008302889405513119
Disinhibition 0.008302889405513119
Hyperintensity of cerebral white matter on MRI 0.008302889405513119
Vocal cord paralysis 0.008302889405513119
Smooth tongue 0.008302889405513119
Cystic lesions of the pinnae 0.008302889405513119
Flat acetabular roof 0.008302889405513119
Clinodactyly of the 3rd finger 0.008302889405513119
Varicocele 0.008302889405513119
Abnormality of the musculature of the upper arm 0.008302889405513119
Abnormality of pancreas physiology 0.008302889405513119
Advanced pneumatization of cranial sinuses 0.008302889405513119
Popliteal pterygium 0.008302889405513119
Bifid ribs 0.008302889405513119
Vascular remnant arising from the disc 0.008302889405513119
Carpal osteolysis 0.008302889405513119
Neoplasm of the adrenal gland 0.008302889405513119
Coronal cleft vertebrae 0.008302889405513119
Pituitary calcification 0.008302889405513119
Thin bony cortex 0.008302889405513119
Gastric ulcer 0.008302889405513119
Dermal atrophy 0.008302889405513119
Asymmetry of the size of ears 0.008302889405513119
Dementia 0.008302889405513119
Bilateral cleft lip 0.008302889405513119
Spinal muscular atrophy 0.008302889405513119
Platybasia 0.008302889405513119
Hyperplasia of the maxilla 0.008302889405513119
Aplasia/Hypoplasia involving the sinuses 0.008302889405513119
Narrow greater sciatic notch 0.008302889405513119
Blue nevus 0.008302889405513119
Hyoplasia of the Leydig cells 0.008302889405513119
Abnormality of the alveolar ridges 0.008302889405513119
Abnormality of tibia morphology 0.008302889405513119
Spondyloepiphyseal dysplasia 0.008302889405513119
Thickened cortex of bones 0.008302889405513119
Bladder fistula 0.008302889405513119
Iliac crest serration 0.008302889405513119
Lobulated tongue 0.008302889405513119
Osteolysis 0.008302889405513119
Renal artery stenosis 0.008302889405513119
Cloverleaf skull 0.008302889405513119
Pancytopenia 0.008302889405513119
Antecubital pterygium 0.008302889405513119
Breast hypertrophy 0.008302889405513119
Neoplasm of the gastrointestinal tract 0.008302889405513119
Pseudoepiphyses of the metacarpals 0.008302889405513119
Avascular necrosis 0.008302889405513119
Arterial tortuosity 0.008302889405513119
Thymus hyperplasia 0.008302889405513119
Small scrotum 0.008302889405513119
Vasovagal syncope 0.008302889405513119
Microcoria 0.008302889405513119
Red hair 0.008302889405513119
Ectopic calcification 0.008302889405513119
Impaired tandem gait 0.008302889405513119
Osteoarthritis 0.008302889405513119
Hypoxemia in cord blood 0.008302889405513119
Umbilical cord knot 0.008302889405513119
Ankylosis 0.008302889405513119
Infertility 0.008302889405513119
Interosseus muscle atrophy 0.008302889405513119
Thenar muscle weakness 0.008302889405513119
Abnormal morphology of myocardial trabeculae 0.008302889405513119
Structural foot deformity 0.008302889405513119
Corneal ulceration 0.008302889405513119
Mixed demyelinating and axonal polyneuropathy 0.008302889405513119
Lumbar kyphosis 0.008302889405513119
Oroticaciduria 0.008302889405513119
Persistent left superior vena cava 0.008302889405513119
Hyperpigmentation of eyelids 0.008302889405513119
Premature pubarche 0.008302889405513119
Decreased glucose-6-phosphate dehydrogenase level in blood 0.008302889405513119
Urethral diverticulum 0.008302889405513119
Multiple rows of eyelashes 0.008302889405513119
Progressive hearing impairment 0.008302889405513119
Subcutaneous calcification 0.008302889405513119
Large pelvis bone 0.008302889405513119
Neoplasm of the breast 0.008302889405513119
Axial dystonia 0.008302889405513119
Ophthalmoparesis 0.008302889405513119
Cerebral venous thrombosis 0.008302889405513119
Narrow nasal tip 0.008302889405513119
Steep acetabular roof 0.008302889405513119
Hypoplastic nasal tip 0.008302889405513119
Epidermoid cyst 0.008302889405513119
Philtrum with midline raphe 0.008302889405513119
Dorsocervical fat pad 0.008302889405513119
Irregular phalanges 0.008302889405513119
Aplasia/Hypoplasia of the bladder 0.008302889405513119
Encephalomalacia 0.008302889405513119
Suck reflex 0.008302889405513119
Abnormality of the phalanges of the toes 0.008302889405513119
Panic attack 0.008302889405513119
Restricted neck movement due to contractures 0.008302889405513119
Metopic depression 0.008302889405513119
Squared superior portion of helix 0.008302889405513119
Priapism 0.008302889405513119
Skin rash 0.008302889405513119
Cone dystrophy 0.008302889405513119
Urinary retention 0.008302889405513119
Reduced factor XI activity 0.008302889405513119
Dilatation of renal calices 0.008302889405513119
Congenital, generalized hypertrichosis 0.008302889405513119
EEG with hyperventilation-induced epileptiform discharges 0.008302889405513119
Nocturnal seizures 0.008302889405513119
Congenital encephalopathy 0.008302889405513119
EEG with occipital focal spikes 0.008302889405513119
Neonatal inspiratory stridor 0.008302889405513119
Abnormal size of nasopharyngeal adenoids 0.008302889405513119
Aplasia/Hypoplasia of the 2nd finger 0.008302889405513119
Aplasia/Hypoplasia of the 3rd finger 0.008302889405513119
Aplasia/Hypoplasia of the 4th finger 0.008302889405513119
Skin nodule 0.008302889405513119
Eosinophilic infiltration of the esophagus 0.008302889405513119
Thoracic hemivertebrae 0.008302889405513119
Narrow uvula 0.008302889405513119
Auditory hallucinations 0.008302889405513119
Sparse facial hair 0.008302889405513119
Pulmonary venous hypertension 0.008302889405513119
Hand oligodactyly 0.008302889405513119
Sinus bradycardia 0.008302889405513119
Posterior subcapsular cataract 0.008302889405513119
Severe limb shortening 0.008302889405513119
Small foramen magnum 0.008302889405513119
Aplasia of the pectoralis major muscle 0.008302889405513119
Paroxysmal dyskinesia 0.008302889405513119
Acromelia 0.008302889405513119
Thoracolumbar kyphosis 0.008302889405513119
Hypocholesterolemia 0.008302889405513119
Recurrent pyelonephritis 0.008302889405513119
Socially inappropriate behavior 0.008302889405513119
Encephalitis 0.008302889405513119
Fluctuations in consciousness 0.008302889405513119
Frontal lobe dementia 0.008302889405513119
Abnormal coronary artery origin 0.008302889405513119
Thyroid nodule 0.008302889405513119
Difficulty climbing stairs 0.008302889405513119
Gowers sign 0.008302889405513119
Autonomic bladder dysfunction 0.008302889405513119
Loss of ability to walk 0.008302889405513119
Acromicria 0.008302889405513119
Oxycephaly 0.008302889405513119
Recurrent paroxysmal headache 0.008302889405513119
Dilatation of the ventricular cavity 0.008302889405513119
Postauricular pit 0.008302889405513119
Addictive behavior 0.008302889405513119
Homonymous hemianopia 0.008302889405513119
Pseudopapilledema 0.008302889405513119
Spastic hemiparesis 0.008302889405513119
Absent distal interphalangeal creases 0.008302889405513119
Bronchospasm 0.008302889405513119
Hepatic hemangioma 0.008302889405513119
Limb muscle weakness 0.008302889405513119
Convulsive status epilepticus 0.008302889405513119
Enlarged epiphysis of the distal phalanx of the thumb 0.008302889405513119
Simplified gyral pattern 0.008302889405513119
Diffuse telangiectasia 0.008302889405513119
Hemihypertrophy of upper limb 0.008302889405513119
Thrombophlebitis 0.008302889405513119
Femoral hernia 0.008302889405513119
Partial absence of thumb 0.008302889405513119
Abdominal colic 0.008302889405513119
Absent earlobe 0.008302889405513119
Anasarca 0.008302889405513119
Myofibrillar myopathy 0.008302889405513119
Severe temper tantrums 0.008302889405513119
Allodynia 0.008302889405513119
Cutaneous cyst 0.008302889405513119
Erythema 0.008302889405513119
Increased circulating antibody level 0.008302889405513119
Oliguria 0.008302889405513119
Abnormal liver morphology 0.008302889405513119
Antalgic gait 0.008302889405513119
Arthralgia of the hip 0.008302889405513119
Conjunctival icterus 0.008302889405513119
Dysplastic iliac wings 0.008302889405513119
Esophageal varix 0.008302889405513119
Osteochondritis Dissecans 0.008302889405513119
Atelectasis 0.008302889405513119
Gastrointestinal eosinophilia 0.008302889405513119
Abnormal ascending aorta morphology 0.008302889405513119
Generalized osteoporosis 0.008302889405513119
Unilateral vestibular Schwannoma 0.008302889405513119
Flexion contracture of finger 0.008302889405513119
Vertebral wedging 0.008302889405513119
Abnormality of fontanelles 0.008302889405513119
Increased theta frequency activity in EEG 0.008302889405513119
Cutaneous hamartoma 0.008302889405513119
Hypoalbuminemia 0.008302889405513119
Palmar pits 0.008302889405513119
Cutis marmorata telangiectatica congenita 0.008302889405513119
Deep venous thrombosis 0.008302889405513119
Podagra 0.008302889405513119
Tetralogy of Fallot with atrioventricular canal defect 0.008302889405513119
Short fifth metatarsal 0.008302889405513119
Unexplained fevers 0.008302889405513119
Simple ear 0.008302889405513119
Absence of pectoralis minor muscle 0.008302889405513119
Abnormality of optic chiasm morphology 0.008302889405513119
Asymmetry of the position of the ears 0.008302889405513119
Anterior open-bite malocclusion 0.008302889405513119
Insulin-resistant diabetes mellitus 0.008302889405513119
Agenesis of molar 0.008302889405513119
Fused lumbar vertebrae 0.008302889405513119
Lambdoidal craniosynostosis 0.008302889405513119
Abnormality of the palatine bone 0.008302889405513119
Bicuspid pulmonary valve 0.008302889405513119
Lunate-triquetral fusion 0.008302889405513119
Highly elevated creatine kinase 0.008302889405513119
Repeated pneumothoraces 0.008302889405513119
Breast aplasia 0.008302889405513119
Anorchism 0.008302889405513119
Ectopic ossification 0.008302889405513119
Abnormal speech prosody 0.008302889405513119
Hypocitraturia 0.008302889405513119
Maintenance insomnia 0.008302889405513119
Apical hypertrabeculation of the left ventricle 0.008302889405513119
Anterior cervical hypertrichosis 0.008302889405513119
Talipes calcaneovarus 0.008302889405513119
Bilateral tonic-clonic seizure with generalized onset 0.008302889405513119
Retinal astrocytic hamartoma 0.008302889405513119
Increased total bilirubin 0.008302889405513119
Biliary tract abnormality 0.008302889405513119
Neuronal/glioneuronal neoplasm of the central nervous system 0.008302889405513119
Central serous chorioretinopathy 0.008302889405513119
Ectopic scrotum 0.008302889405513119
Maturity-onset diabetes of the young 0.008302889405513119
Waddling gait 0.008302889405513119
Subcutaneous neurofibromas 0.008302889405513119
Midgut malrotation 0.008302889405513119

Cohort genome coverage analysis

Distribution of the genome coverage of all mutations characterized in the cohort. Second figure shows the same results for SORs.

Distribution of mutations

Distribution of all mutations along the genome (Length) and the number of patients that have at least one of them (Count). Second figure shows the same for SORs.

HPO annotations distribution

Analysis of the HPO terms within the HPO ontology and the cohort of patients. Left: distribution of terms within the ontology and the cohort. Right: percentage of terms distribution within the ontology and the cohort.

HPOs frequency distribution. Colour based on the HPO frequency.

Clustering patients by HPO profile

All patients are clustered using their HPO profiles. First figure shows the information coefficient distribution for the top clusters. Second figure shows which chromosomes are affected in the patients for each top cluster.

HPO profile redundancy

For each patient profile size (number of phenotypes, x-axis) it is shown the number of HPO phenotypes that are parent of other terms within the profile (number of parent terms, y-axis).

HPO ICs distribution

First figure shows the ICs distribution in terms of the HP ontology (x-axis) and for each single HPO term, its frequency in the cohort according to the HP ontology structure (y-axis) and the second figure shows the same distributions considering the profiles analyzed.

HPO frequency by cluster

Patients in Cluster 0 Phenotypes Frequency
20 Intellectual disability, Optic nerve glioma, Seizure, Craniosynostosis, Brachydactyly, Abnormality of vision, Morphological central nervous system abnormality, Intention tremor, Hypothyroidism, Abnormal heart morphology, Alacrima, Hoarse voice, Poor eye contact, Spastic diplegia, Hypertonia, Cerebellar atrophy, Melanoma, Abnormality of skin pigmentation, Generalized dystonia, Morbus Scheuermann, Delayed gross motor development, Lissencephaly 100.0, 5.0, 100.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0, 5.0
Patients in Cluster 1 Phenotypes Frequency
18 Autism, Intellectual disability, Seizure, Abnormality of the skin, Strabismus, Triangular face, Obsessive-compulsive behavior 100.0, 100.0, 100.0, 5.5556, 5.5556, 5.5556, 5.5556
Patients in Cluster 2 Phenotypes Frequency
17 Abnormal facial shape, Global developmental delay, Hypocalcemia, Profound sensorineural hearing impairment, Choanal atresia, Coloboma, Myoclonus, Coarctation of aorta, Myotonia, Language impairment, Short palm, Overgrowth, Abnormality of cardiovascular system morphology, Frontal bossing, Basal ganglia calcification, Congenital nystagmus, Plagiocephaly, Renal dysplasia, Nystagmus 100.0, 100.0, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824
Patients in Cluster 3 Phenotypes Frequency
17 Abnormal vertebral morphology, Autism, Intellectual disability, Cataract, Renal dysplasia, Neurological speech impairment, Hypospadias, Generalized-onset seizure, Repetitive compulsive behavior, Overgrowth, Nephropathy, Brachycephaly, Abnormal thorax morphology, Vertebral fusion, Aplastic/hypoplastic toenail, Bilateral camptodactyly, Gait apraxia, Posterior plagiocephaly, Neurodevelopmental delay 5.8824, 100.0, 100.0, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824, 5.8824
Patients in Cluster 4 Phenotypes Frequency
17 Autism, Delayed speech and language development, Intellectual disability, Sleep apnea, Downturned corners of mouth 100.0, 100.0, 100.0, 5.8824, 5.8824
Patients in Cluster 5 Phenotypes Frequency
16 Global developmental delay, Nasal speech, Seizure, Constipation, Humoral immunodeficiency, Plagiocephaly, Diffuse demyelination of the cerebral white matter, Periventricular leukomalacia, Hypsarrhythmia, Inappropriate behavior, Laryngeal stridor, Abnormality of the face, Hypotonia, Abnormal corpus callosum morphology, Ichthyosis, Tremor, Poor speech, Juvenile gastrointestinal polyposis 100.0, 6.25, 100.0, 6.25, 6.25, 6.25, 6.25, 6.25, 6.25, 6.25, 6.25, 6.25, 6.25, 6.25, 6.25, 6.25, 6.25, 6.25
Patients in Cluster 6 Phenotypes Frequency
14 Behavioral abnormality, Hypoparathyroidism, Intellectual disability, Hypothyroidism, Prominent fingertip pads, Abnormality of the forehead, Nasal speech, Cystic hygroma, Focal aware seizure, Hypsarrhythmia, Abnormal cerebellum morphology, Global developmental delay, Specific learning disability, Prominent forehead, Hypoplasia of the corpus callosum, Delayed puberty 100.0, 7.1429, 100.0, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429
Patients in Cluster 7 Phenotypes Frequency
14 Broad face, Intellectual disability, Obesity, Self-mutilation, Sleep disturbance, Upslanted palpebral fissure, Horseshoe kidney, Abnormality of the biliary system, Stereotypy, Polydactyly, Abnormal external genitalia, Disproportionate short-limb short stature, Short attention span, Dyslexia, Abnormal heart morphology, Scoliosis 7.1429, 100.0, 100.0, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429
Patients in Cluster 8 Phenotypes Frequency
14 Intellectual disability, Macrodontia, Microcephaly, Abnormality of vision, Focal impaired awareness seizure, Cavernous hemangioma, Sloping forehead, Fibrous dysplasia of the bones, Sandal gap, Epileptic spasm, Sensory impairment, Psychotic episodes, Preaxial polydactyly, Broad neck, Short neck, Dysarthria 100.0, 7.1429, 100.0, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429, 7.1429
Patients in Cluster 9 Phenotypes Frequency
12 Conspicuously happy disposition, Delayed speech and language development, EEG abnormality, Gait disturbance, Intellectual disability, Microcephaly 100.0, 100.0, 100.0, 100.0, 100.0, 100.0
Patients in Cluster 10 Phenotypes Frequency
12 Apnea, Generalized hypotonia, Global developmental delay, EEG with focal epileptiform discharges, Cortical dysplasia, Premature birth, Molar tooth sign on MRI, Visual impairment, Abnormality of the mouth, Linear hyperpigmentation, Single transverse palmar crease, Growth delay, Overgrowth, Bilateral cryptorchidism 8.3333, 100.0, 100.0, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333
Patients in Cluster 11 Phenotypes Frequency
12 Bilateral tonic-clonic seizure, Delayed speech and language development, Global developmental delay, Febrile seizure (within the age range of 3 months to 6 years), Unilateral cleft lip, Delayed fine motor development, Generalized neonatal hypotonia, Hypotonia, Congenital conductive hearing impairment, Cone/cone-rod dystrophy, Abnormal social behavior, Failure to thrive in infancy, Psychomotor retardation, Subcortical cerebral atrophy 8.3333, 100.0, 100.0, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333, 8.3333
Patients in Cluster 12 Phenotypes Frequency
11 Abnormality of the eye, Abnormality of the face, Intellectual disability, Ureteral atresia, Aplasia/Hypoplasia involving the metacarpal bones, Intrauterine growth retardation, Myoclonus, Schizencephaly, Abnormality of the pinna, Macrocephaly, Severe T-cell immunodeficiency, Atopic dermatitis, Small hand 9.0909, 100.0, 100.0, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909
Patients in Cluster 13 Phenotypes Frequency
11 Delayed speech and language development, Intellectual disability, Myoclonus, Preauricular skin tag, Abnormal heart morphology, Everted lower lip vermilion, Hoarse voice, Cutaneous finger syndactyly, Abnormal CNS myelination, Postnatal microcephaly, Generalized myoclonic seizure, Mild microcephaly, Large for gestational age 100.0, 100.0, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909, 9.0909
Patients in Cluster 14 Phenotypes Frequency
10 Feeding difficulties in infancy, Hypogonadotropic hypogonadism, Hypotonia, Intellectual disability, Obesity 100.0, 100.0, 100.0, 100.0, 100.0
Patients in Cluster 15 Phenotypes Frequency
10 Global developmental delay, Macrocephaly, Overgrowth, Abnormality of coagulation, Abnormality of finger, Sensory impairment, Neonatal hypotonia, Coloboma, Joint laxity, Impaired social interactions, Ectopic ossification, Dysplastic aortic valve 100.0, 100.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0
Patients in Cluster 16 Phenotypes Frequency
10 Autism, Delayed speech and language development, Global developmental delay, Intellectual disability, borderline, Aggressive behavior, Developmental regression, Motor delay 100.0, 100.0, 100.0, 10.0, 10.0, 10.0, 10.0
Patients in Cluster 17 Phenotypes Frequency
10 Autistic behavior, Intellectual disability, Plagiocephaly, Gray matter heterotopia, Abnormal foot morphology, Cystinuria, Short attention span, Specific learning disability, Bilateral multifocal epileptiform discharges, Hand polydactyly, Coarctation of aorta, Synophrys 100.0, 100.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0
Patients in Cluster 18 Phenotypes Frequency
10 Global developmental delay, Macrotia, Microcephaly, Stomach cancer, Spastic paraparesis, Generalized-onset seizure, Hypoplasia of the corpus callosum, Renal hypoplasia, Aggressive behavior, Albinism, Cerebellar hypoplasia, Micrognathia 100.0, 10.0, 100.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0
Patients in Cluster 19 Phenotypes Frequency
10 Broad thumb, Intellectual disability, Macrocephaly, Myoclonus, Overgrowth, Multiple lipomas, Generalized-onset seizure, Cutis marmorata, Generalized hypotonia, Large fontanelles, Multicystic kidney dysplasia, Thyroglossal cyst 10.0, 100.0, 100.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0, 10.0
Patients in Cluster 20 Phenotypes Frequency
10 Delayed speech and language development, Intellectual disability, Seizure, Stereotypy, Speech apraxia 100.0, 100.0, 100.0, 10.0, 10.0
Patients in Cluster 21 Phenotypes Frequency
10 Intellectual disability, Microcephaly, Rod-cone dystrophy, Short stature, Split foot, Unilateral cleft lip, Ataxia 100.0, 100.0, 10.0, 100.0, 10.0, 10.0, 10.0
Patients in Cluster 22 Phenotypes Frequency
9 Hyperactivity, Intellectual disability, Protruding ear, Hypothyroidism, Abnormality of skin pigmentation, Neoplasm of the central nervous system, Ptosis, Abnormal abdomen morphology, Short stature, Tip-toe gait, Growth delay 100.0, 100.0, 11.1111, 11.1111, 11.1111, 11.1111, 11.1111, 11.1111, 11.1111, 11.1111, 11.1111
Patients in Cluster 23 Phenotypes Frequency
9 Hydrocephalus, Intellectual disability, Short stature, Primary amenorrhea, Non-midline cleft lip, Abnormality of the kidney, Temporal cortical atrophy, Hypoplasia of the radius, Cleft palate, Abnormal thorax morphology, Cerebellar glioma 11.1111, 100.0, 100.0, 11.1111, 11.1111, 11.1111, 11.1111, 11.1111, 11.1111, 11.1111, 11.1111
Patients in Cluster 24 Phenotypes Frequency
8 Abnormal facial shape, Global developmental delay, Seizure, High palate, Abnormal mitral valve morphology 100.0, 100.0, 100.0, 12.5, 12.5

Patient profiles heatmaps

For each patient, their HPO profile similarity coefficient is calculated according to the different methods specified in the analysis and represented in these heatmaps.